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Robert Desnick

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Anne M Slavotinek; Paul Ling-Fung Tang; Mani Yahyavi; Don Cameron; Chris Chou; Catherine Chu; Kelly Cordoro; Koen Devriendt; Ilona Frieden; Tom Glaser; Pui-Yan Kwok; Richard Lao; Ben Li; Ann L Marqueling; Pavni Mehrotra; Marie-Anne Morren; Irina Nazarenko; Martin Petkovich; Trine Prescott; Robert J Desnick
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Manisha Balwani; David F Bishop; D Montgomery Bissell; Joseph Bloomer; Herbert L Bonkovsky; Harry A Dailey; Dana Doheny; Lawrence Liu; Irina Nazarenko; John D Phillips; Makiko Yasuda; Karl E Anderson; Robert J Desnick
Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria.
David F Bishop; Irina Nazarenko; Vassili Tchaikovskii; Robert J Desnick
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.

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2013: Anne M Slavotinek; Paul Ling-Fung Tang; Mani Yahyavi; Don Cameron; Chris Chou; Catherine Chu; Kelly Cordoro; Koen Devriendt; Ilona Frieden; Tom Glaser; Pui-Yan Kwok; Richard Lao; Ben Li; Ann L Marqueling; Pavni Mehrotra; Marie-Anne Morren; Irina Nazarenko; Martin Petkovich; Trine Prescott; Robert J Desnick
Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.
Human molecular genetics 2013;22(4):696-703.
2013: Manisha Balwani; David F Bishop; D Montgomery Bissell; Joseph Bloomer; Herbert L Bonkovsky; Harry A Dailey; Dana Doheny; Lawrence Liu; Irina Nazarenko; John D Phillips; Makiko Yasuda; Karl E Anderson; Robert J Desnick
Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in North American Patients Reveal Novel Mutations and a High Prevalence of X-Linked Protoporphyria.
Molecular medicine (Cambridge, Mass.) 2013;19(1):26-35.
2013: David F Bishop; Irina Nazarenko; Vassili Tchaikovskii; Robert J Desnick
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria.
Molecular medicine (Cambridge, Mass.) 2013;19():18-25.
2012: Manisha Balwani; Robert J Desnick
The porphyrias: advances in diagnosis and treatment.
Blood 2012;120(23):4496-504.
2012: S A Scott; Y Kasai; Ruth Kornreich; S Martis; I Peter; Robert J Desnick
Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness.
The pharmacogenomics journal 2012;12(4):297-305.
2012: Stuart A Scott; Sarina van der Zee; Chang Yoo; Lisa Edelmann; Jonathan L Halperin; Steven A Lubitz; Suparna Martis; Manishkumar Patel; Robert J Desnick
Copy number variation and warfarin dosing: evaluation of CYP2C9, VKORC1, CYP4F2, GGCX and CALU.
Pharmacogenomics 2012;13(3):297-307.
2012: Manisha Balwani; Robert J Desnick
The porphyrias: advances in diagnosis and treatment.
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program 2012;2012():19-27.
2012: Robert J Desnick; Edward H Schuchman
Enzyme replacement therapy for lysosomal diseases: lessons from 20 years of experience and remaining challenges.
Annual review of genomics and human genetics 2012;13():307-35.
2012: Yin-Hsiu Chien; Robert J Desnick; Shu-Chuan Chiang; Ni-Chung Lee; Wuh-Liang Hwu
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
Molecular medicine (Cambridge, Mass.) 2012;18():780-4.
2011: Alireza Haghighi; Ruth Kornreich; Amira Masri; Robert J Desnick
Tay-Sachs disease in an Arab family due to c.78G>A HEXA nonsense mutation encoding a p.W26X early truncation enzyme peptide.
Molecular genetics and metabolism 2011;104(4):700-2.
2011: Ulla Feldt-Rasmussen; Lis Hasholt; Irina Nazarenko; Ase Krogh Rasmussen; Soren S Sorensen; Flemming Wibrand; Martin Ballegaard; Erik I Christensen; Robert Dobrovolny; Robert J Desnick
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.
Molecular genetics and metabolism 2011;104(3):314-8.
2011: David E Cervantes-Barragán; Victoria Del-Castillo; Vanessa Bosch-Canto; Carola Durán-McKinster; Alma Medrano-Hernández; Irina Nazarenko; Camilo E Villarroel; Amy Yang; Robert J Desnick
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
Journal of medical genetics 2011;48(10):716-20.
2011: M F Barginear; Malgorzata Jaremko; Y Kasai; M Kemeny; I Peter; George Raptis; C Yu; Robert J Desnick
Increasing tamoxifen dose in breast cancer patients based on CYP2D6 genotypes and endoxifen levels: effect on active metabolite isomers and the antiestrogenic activity score.
Clinical pharmacology and therapeutics 2011;90(4):605-11.
2011: Hector L Franco; Robert Friesel; Yongchao Ge; Ruth G Leon; Jose J Casasnovas; Robert J Desnick; Carmen L Cadilla
Nonsense mutations of the bHLH transcription factor TWIST2 found in Setleis Syndrome patients cause dysregulation of periostin.
The international journal of biochemistry & cell biology 2011;43(10):1523-31.
2011: Alireza Haghighi; Amirreza Haghighi; Ruth Kornreich; Jamileh Rezazadeh; Azam Ahmadi Shadmehri; Robert J Desnick
Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.
Journal of human genetics 2011;56(9):682-4.
2011: Jinglan Zhang; Manisha Balwani; David Bishop; Robert J Desnick; Makiko Yasuda; Chunli Yu
A LC-MS/MS method for the specific, sensitive, and simultaneous quantification of 5-aminolevulinic acid and porphobilinogen.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2011;879(24):2389-96.
2011: Manisha Balwani; Marie E Grace; Robert J Desnick
Gaucher disease: when molecular testing and clinical presentation disagree -the novel c.1226A>G(p.N370S)--RecNcil allele.
Journal of inherited metabolic disease 2011;34(3):789-93.
2011: Robert Dobrovolny; Irina Nazarenko; Jungmin Kim; Dana Doheny; Robert J Desnick
Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.
Human mutation 2011;32(6):688-95.
2011: Jeffrey K Wickliffe; Sherif Z Abdel-Rahman; Chul Lee; Csilla Kormos-Hallberg; Gagan Sood; Catherine M Rondelli; James J Grady; Robert J Desnick; Karl E Anderson
CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda.
Molecular medicine (Cambridge, Mass.) 2011;17(3-4):241-7.
2011: Alev Hasanoglu; Manisha Balwani; Ciğdem S Kasapkara; Fatih S Ezgü; Ilyas Okur; Leyla Tümer; Alpay Cakmak; Irina Nazarenko; Chunli Yu; Sonia Clavero; David F Bishop; Robert J Desnick
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Journal of inherited metabolic disease 2011;34(1):225-31.
2011: Inga Peter; Daniel H Present; Thomas Ullman; Maria Abreu; Keith Benkov; Robert J Desnick; Dana Doheny; Monica Erazo; Jianzhong HU; Burton I Korelitz; Lloyd Mayer; Adele A Mitchell; Laurie Ozelius
Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.
BMC medical genetics 2011;12():63.
2010: Malgorzata Jaremko; Yumi Kasai; Myra F Barginear; George Raptis; Robert J Desnick; Chunli Yu
Tamoxifen metabolite isomer separation and quantification by liquid chromatography-tandem mass spectrometry.
Analytical chemistry 2010;82(24):10186-93.
2010: Stuart A Scott; Lisa Edelmann; Liu Liu; Minjie Luo; Robert J Desnick; Ruth Kornreich
Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.
Human mutation 2010;31(11):1240-50.
2010: Donna L Bernstein; Martin G Bialer; Lakshmi Mehta; Robert J Desnick
Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients.
Molecular genetics and metabolism 2010;101(2-3):130-3.
2010: Manisha Balwani; Laura Fuerstman; Ruth Kornreich; Lisa Edelmann; Robert J Desnick
Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.
Archives of internal medicine 2010;170(16):1463-9.
2010: Sonia Clavero; David F Bishop; Urs Giger; Mark E Haskins; Robert J Desnick
Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation.
Molecular medicine (Cambridge, Mass.) 2010;16(9-10):381-8.
2010: Turgut Tukel; Drazen Šošić; Lihadh I Al-Gazali; Mónica Erazo; Jose Casasnovas; Hector L Franco; James A Richardson; Eric N Olson; Carmen L Cadilla; Robert J Desnick
Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.
American journal of human genetics 2010;87(2):289-96.
2010: Stuart A Scott; Rame Khasawneh; Inga Peter; Ruth Kornreich; Robert J Desnick
Combined CYP2C9, VKORC1 and CYP4F2 frequencies among racial and ethnic groups.
Pharmacogenomics 2010;11(6):781-91.
2010: Julie L Cantatore-Francis; Jessica Cohen-Pfeffer; Manisha Balwani; Philip Kahn; Herbert M Lazarus; Robert J Desnick; Julie V Schaffer
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.
Archives of dermatology 2010;146(5):529-33.
2010: Steven A Lubitz; S A Scott; E B Rothlauf; A Agarwal; I Peter; Dana Doheny; S Van Der Zee; Malgorzata Jaremko; C Yoo; Robert J Desnick; Jonathan L Halperin
Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population.
Journal of thrombosis and haemostasis : JTH 2010;8(5):1018-26.
2010: Elisa Galende; Ioannis Karakikes; Lisa Edelmann; Robert J Desnick; Thomas Kerenyi; Georges Khoueiry; James Lafferty; Joseph T McGinn; Michael Brodman; Valentin Fuster; Roger J Hajjar; Katalin Polgar
Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells.
Cellular reprogramming 2010;12(2):117-25.
2010: Sonia Clavero; David F Bishop; Mark E Haskins; Urs Giger; Raili Kauppinen; Robert J Desnick
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.
Human molecular genetics 2010;19(4):584-96.
2010: David F Bishop; Xiaoye Schneider-Yin; Sonia Clavero; Han-Wook Yoo; Elisabeth I Minder; Robert J Desnick
Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.
Blood 2010;115(5):1062-9.
2010: Stuart A Scott; Ninette Cohen; Tracy Brandt; Gokce Toruner; Robert J Desnick; Lisa Edelmann
Detection of low-level mosaicism and placental mosaicism by oligonucleotide array comparative genomic hybridization.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(2):85-92.
2010: John Marshall; Karen M Ashe; Dinesh Bangari; KerryAnne McEachern; Wei-Lien Chuang; Joshua Pacheco; Diane P Copeland; Robert J Desnick; James A Shayman; Ronald K Scheule; Seng Cheng
Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.
PloS one 2010;5(11):e15033.
2010: Marcella A Wozniak; Steven Kittner; Stanley Tuhrim; John W Cole; Barney J Stern; Mark Dobbins; Marie E Grace; Irina Nazarenko; Robert Dobrovolny; Eric McDade; Robert J Desnick
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Stroke; a journal of cerebral circulation 2010;41(1):78-81.
2010: Makiko Yasuda; David F Bishop; Mary Fowkes; Seng Cheng; Lin Gan; Robert J Desnick
AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria and improves neuromotor function.
Molecular therapy : the journal of the American Society of Gene Therapy 2010;18(1):17-22.
2010: Richie Khanna; Rebecca Soska; Yi Lun; Jessie Feng; Michelle Frascella; Brandy Young; Nastry Brignol; Lee Pellegrino; Sheela A Sitaraman; Robert J Desnick; Elfrida R Benjamin; David J Lockhart; Kenneth J Valenzano
The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.
Molecular therapy : the journal of the American Society of Gene Therapy 2010;18(1):23-33.
2009: Manisha Balwani; Laura Fuerstman; Robert J Desnick; Brian Buckley; Margaret M McGovern
Use of complementary and alternative medicine by patients with lysosomal storage diseases.
Genetics in medicine : official journal of the American College of Medical Genetics 2009;11(10):722-7.
2009: Wuh-Liang Hwu; Yin-Hsiu Chien; Ni-Chung Lee; Shu-Chuan Chiang; Robert Dobrovolny; Ai-Chu Huang; Hui-Ying Yeh; May-Chin Chao; Shio-Jean Lin; Teruo Kitagawa; Robert J Desnick; Li-Wen Hsu
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Human mutation 2009;30(10):1397-405.
2009: Stuart A Scott; Malgorzata Jaremko; Steven A Lubitz; Ruth Kornreich; Jonathan L Halperin; Robert J Desnick
CYP2C9*8 is prevalent among African-Americans: implications for pharmacogenetic dosing.
Pharmacogenomics 2009;10(8):1243-55.
2009: Raphael Schiffmann; David G Warnock; Maryam Banikazemi; Jan Bultas; Gabor E Linthorst; Seymour Packman; Sven Asger Sorensen; William R Wilcox; Robert J Desnick
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009;24(7):2102-11.
2008: Margaret M McGovern; Melissa P Wasserstein; Roberto Giugliani; Bruno Bembi; marie T vanier; Eugen Mengel; Scott E Brodie; David Mendelson; Gwen Skloot; Robert J Desnick; Noriko Kuriyama; Gerald F Cox
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.
Pediatrics 2008;122(2):e341-9.
2008: Luis Cunha; Miklos Kuti; David F Bishop; Mihaly Mezei; Lei Zeng; Ming-Ming Zhou; Robert J Desnick
Human uroporphyrinogen III synthase: NMR-based mapping of the active site.
Proteins 2008;71(2):855-73.
2008: Stuart A Scott; Lisa Edelmann; Ruth Kornreich; Robert J Desnick
Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotypes predict different sensitivity and resistance frequencies in the Ashkenazi and Sephardi Jewish populations.
American journal of human genetics 2008;82(2):495-500.
2007: Makiko Yasuda; Maciej E Domaradzki; Donna Armentano; Seng Cheng; David F Bishop; Robert J Desnick
Acute intermittent porphyria: vector optimization for gene therapy.
The journal of gene medicine 2007;9(9):806-11.
2007: Marie E Grace; Manisha Balwani; Irina Nazarenko; Ainu Prakash-Cheng; Robert J Desnick
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring.
Human mutation 2007;28(9):866-73.
2007: Robert J Desnick
Prenatal diagnosis of Fabry disease.
Prenatal diagnosis 2007;27(8):693-4.
2007: Stuart A Scott; Lisa Edelmann; Ruth Kornreich; Monica Erazo; Robert J Desnick
CYP2C9, CYP2C19 and CYP2D6 allele frequencies in the Ashkenazi Jewish population.
Pharmacogenomics 2007;8(7):721-30.
2007: Dominique P Germain; Stephen Waldek; Maryam Banikazemi; David A Bushinsky; Joel Charrow; Robert J Desnick; Philip Lee; Thomas Loew; Anouk C Vedder; Rekha Abichandani; William R Wilcox; Nathalie Guffon
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
Journal of the American Society of Nephrology : JASN 2007;18(5):1547-57.
2007: Robin J Ziegler; Maribeth Cherry; Christine Barbon; Chester Li; Scott D Bercury; Donna Armentano; Robert J Desnick; Seng Cheng
Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A.
Molecular therapy : the journal of the American Society of Gene Therapy 2007;15(3):492-500.
2007: Maryam Banikazemi; Jan Bultas; Stephen Waldek; William R Wilcox; Chester Whitley; Marie McDonald; Richard Finkel; Seymour Packman; Daniel G Bichet; David G Warnock; Robert J Desnick
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
Annals of internal medicine 2007;146(2):77-86.
2006: Melissa P Wasserstein; Alan Aron; Scott E Brodie; Calogera M Simonaro; Robert J Desnick; Margaret M McGovern
Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease.
The Journal of pediatrics 2006;149(4):554-9.
2006: Marco Spada; Severo Pagliardini; Makiko Yasuda; Turgut Tukel; Geetha Thiagarajan; Hitoshi Sakuraba; Alberto Ponzone; Robert J Desnick
High incidence of later-onset fabry disease revealed by newborn screening.
American journal of human genetics 2006;79(1):31-40.
2006: David F Bishop; Annika Johansson; Robert Phelps; Amr A Shady; Maria Celeste M Ramirez; Makiko Yasuda; Andres Caro; Robert J Desnick
Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.
American journal of human genetics 2006;78(4):645-58.
2006: Junaid Shabbeer; Makiko Yasuda; Stacy D Benson; Robert J Desnick
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
Human genomics 2006;2(5):297-309.
2006: Christopher S Nance; Christopher J Klein; Maryam Banikazemi; Steven Dikman; Robert G Phelps; justin charles mcarthur; Moses Rodriguez; Robert J Desnick
Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome.
Archives of neurology 2006;63(3):453-7.
2006: Sandrine Laradi; T Tukel; S Khediri; J Shabbeer; M Erazo; L Chkioua; M Chaabouni; Selima Ferchichi; Abdelhedi Miled; Robert J Desnick
Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients.
Molecular genetics and metabolism 2006;87(3):213-8.
2006: Maryam Banikazemi; Robert J Desnick
Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis?
Nature clinical practice. Nephrology 2006;2(2):72-3.
2006: Margaret M McGovern; Alan Aron; Scott E Brodie; Robert J Desnick; Melissa P Wasserstein
Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.
Neurology 2006;66(2):228-32.
2006: Robert J Desnick; Maryam Banikazemi
Fabry disease: clinical spectrum and evidence-based enzyme replacement therapy.
Néphrologie & thérapeutique 2006;2 Suppl 2():S172-85.
2006: David S Mendelson; Melissa P Wasserstein; Robert J Desnick; Ronald Glass; William Simpson; Gwen Skloot; Marie Vanier; Bruno Bembi; Roberto Giugliani; Eugen Mengel; Gerald F Cox; Margaret M McGovern
Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.
Radiology 2006;238(1):339-45.
2005: Ali A Berry; Robert J Desnick; Kenneth H Astrin; Junard Shabbeer; Anne W Lucky; Henry W Lim
Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.
Archives of dermatology 2005;141(12):1575-9.
2005: Christine Barbon; Robin J Ziegler; Chester Li; Donna Armentano; Maribeth Cherry; Robert J Desnick; Edward H Schuchman; Seng Cheng
AAV8-mediated hepatic expression of acid sphingomyelinase corrects the metabolic defect in the visceral organs of a mouse model of Niemann-Pick disease.
Molecular therapy : the journal of the American Society of Gene Therapy 2005;12(3):431-40.
2005: Maryam Banikazemi; Thomas Ullman; Robert J Desnick
Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy.
Molecular genetics and metabolism 2005;85(4):255-9.
2005: Turgut Tukel; Abdullah Uzumcu; A Gezer; Hulya Kayserili; Memnune Yuksel-Apak; Oya Uyguner; Sakir Humayun Gultekin; Hans Christian Hennies; Peter Nurnberg; Robert J Desnick; Bernd Wollnik
A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
Journal of medical genetics 2005;42(5):408-15.
2005: Sudheera Magage; Ales Linhart; Jan Bultas; Jan Vojacek; Martin Mates; Tomas Palecek; Jana Popelová; Jaroslav Tintera; Michael Aschermann; Martin E Goldman; Robert J Desnick
Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male.
Echocardiography (Mount Kisco, N.Y.) 2005;22(4):333-9.
2005: Karl E Anderson; Joseph R Bloomer; Herbert L Bonkovsky; James P Kushner; Claus A Pierach; Neville R Pimstone; Robert J Desnick
Recommendations for the diagnosis and treatment of the acute porphyrias.
Annals of internal medicine 2005;142(6):439-50.
2005: Jozica Kotnik; Franc Kotnik; Robert J Desnick
Fabry disease. A case report.
Acta dermatovenerologica Alpina, Panonica, et Adriatica 2005;14(1):15-9.
2005: Junaid Shabbeer; Misi Robinson; Robert J Desnick
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Human mutation 2005;25(3):299-305.
2005: Sandrine Laradi; T Tukel; M Erazo; J Shabbeer; L Chkioua; S Khedhiri; Selima Ferchichi; M Chaabouni; Abdelhedi Miled; Robert J Desnick
Mucopolysaccharidosis I: Alpha-L-Iduronidase mutations in three Tunisian families.
Journal of inherited metabolic disease 2005;28(6):1019-26.
2004: Melissa P Wasserstein; Robert J Desnick; Edward H Schuchman; Sabera Hossain; Sylvan Wallenstein; Carin Lamm; Margaret M McGovern
The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study.
Pediatrics 2004;114(6):e672-7.
2004: Constanza Solis; Antonio Martinez-Bermejo; Thomas P Naidich; Walter E Kaufmann; Kenneth H Astrin; David F Bishop; Robert J Desnick
Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias.
Archives of neurology 2004;61(11):1764-70.
2004: Lisa Edelmann; Ghazala Hashmi; Yuhua Song; Yi Han; Ruth Kornreich; Robert J Desnick
Cystic fibrosis carrier screening: validation of a novel method using BeadChip technology.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(5):431-8.
2004: Ruth Kornreich; Josef Ekstein; Lisa Edelmann; Robert J Desnick
Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(5):415-20.
2004: Michael S Watson; Garry R Cutting; Robert J Desnick; Deborah A Driscoll; Katherine Klinger; Michael T Mennuti; Glenn E Palomaki; Bradley W Popovich; Victoria M Pratt; Elizabeth M Rohlfs; Charles M Strom; Carolyn S (Sue) Richards; David R Witt; Wayne W Grody
Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(5):387-91.
2004: Robert J Desnick
Enzyme replacement therapy for Fabry disease: lessons from two alpha-galactosidase A orphan products and one FDA approval.
Expert opinion on biological therapy 2004;4(7):1167-76.
2004: Margaret M McGovern; Tilla Pohl-Worgall; Richard J Deckelbaum; William Simpson; David S Mendelson; Robert J Desnick; Edward H Schuchman; Melissa P Wasserstein
Lipid abnormalities in children with types A and B Niemann Pick disease.
The Journal of pediatrics 2004;145(1):77-81.
2004: Margaret M McGovern; Melissa P Wasserstein; Alan Aron; Robert J Desnick; Edward H Schuchman; Scott E Brodie
Ocular manifestations of Niemann-Pick disease type B.
Ophthalmology 2004;111(7):1424-7.
2004: William R Wilcox; Maryam Banikazemi; Nathalie Guffon; Stephen Waldek; Philip Lee; Gabor E Linthorst; Robert J Desnick; Dominique P Germain
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.
American journal of human genetics 2004;75(1):65-74.
2004: Robert J Desnick; Roscoe O Brady
Fabry disease in childhood.
The Journal of pediatrics 2004;144(5 Suppl):S20-6.
2004: Turgut Tukel; Adel Shalata; Daniel H Present; Daniel Rachmilewitz; Lloyd Mayer; Deniera Grant; Neil Risch; Robert J Desnick
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
American journal of human genetics 2004;74(4):623-36.
2004: Ronald B J Glass; Kenneth H Astrin; Karen I Norton; Rosaleen Parsons; Christine M Eng; Maryam Banikazemi; Robert J Desnick
Fabry disease: renal sonographic and magnetic resonance imaging findings in affected males and carrier females with the classic and cardiac variant phenotypes.
Journal of computer assisted tomography 2004;28(2):158-68.
2004: Constanza Solis; Idoia Lopez-Echaniz; David Sefarty-Graneda; Kenneth H Astrin; Robert J Desnick
Gene symbol: HMBS. Disease: Acute intermittent porphyria.
Human genetics 2004;114(4):402.
2004: Robin J Ziegler; Scott M Lonning; Donna Armentano; Chester Li; David W Souza; Maribeth Cherry; Christine Ford; Christine Barbon; Robert J Desnick; Guangping Gao; James M Wilson; Richard Peluso; Simon Godwin; Barrie J Carter; Richard J Gregory; Samuel C Wadsworth; Seng Cheng
AAV2 vector harboring a liver-restricted promoter facilitates sustained expression of therapeutic levels of alpha-galactosidase A and the induction of immune tolerance in Fabry mice.
Molecular therapy : the journal of the American Society of Gene Therapy 2004;9(2):231-40.
2004: Yunxiang Zhu; Xuemei Li; Edward H Schuchman; Robert J Desnick; Seng Cheng
Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages.
The Journal of pharmacology and experimental therapeutics 2004;308(2):705-11.
2004: Robert J Desnick
Enzyme replacement and enhancement therapies for lysosomal diseases.
Journal of inherited metabolic disease 2004;27(3):385-410.
2004: Malgorzata Przybylska; I-Huan Wu; Hongmei Zhao; Robin J Ziegler; Jennifer D Tousignant; Robert J Desnick; Ronald K Scheule; Seng Cheng; Nelson S Yew
Partial correction of the alpha-galactosidase A deficiency and reduction of glycolipid storage in Fabry mice using synthetic vectors.
The journal of gene medicine 2004;6(1):85-92.
2004: John H C Durham; Robert J Desnick; Louis J Imbriano; Melissa Wasserstein; Vivette D D'Agati; Glen S Markowitz
Prolonged postpartum proteinuria after early preeclampsia.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2004;43(1):186-91.
2004: Shane M Meehan; Tipsuda Junsanto; James J Rydel; Robert J Desnick
Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2004;43(1):164-71.
2003: Makiko Yasuda; Junaid Shabbeer; Stacy D Benson; Irene Maire; Roger M Burnett; Robert J Desnick
Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele.
Human mutation 2003;22(6):486-92.
2003: Roseline Froissart; Nathalie Guffon; marie T vanier; Robert J Desnick; Irène Maire
Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma.
Molecular genetics and metabolism 2003;80(3):307-14.
2003: Seth L Ness; Tamar Ben-Yosef; A Bar-Lev; Anne C Madeo; Carmen C Brewer; Karen B Avraham; R Kornreich; Robert J Desnick; J P Willner; Thomas B Friedman; Andrew J Griffith
Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III.
Journal of medical genetics 2003;40(10):767-72.
2003: Shoichiro Nakao; Chihaya Kodama; Toshihiro Takenaka; Akihiro Tanaka; Yuichiro Yasumoto; Aichi Yoshida; Tamotsu Kanzaki; Annette L D Enriquez; Christine M Eng; Hiromitsu Tanaka; Chuwa Tei; Robert J Desnick
Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype.
Kidney international 2003;64(3):801-7.
2003: Makiko Yasuda; Junaid Shabbeer; Makiko Osawa; Robert J Desnick
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.
American journal of human genetics 2003;73(1):162-73.
2003: Luiz Carlos Santana da Silva; Tiago Santos Carvalho; Fernanda Britto da Silva; Liana Morari; Angela Aguirres Fachel; Ricardo F Pires; Lília Farret Refosco; Robert J Desnick; Roberto Giugliani; Maria Luiza Saraiva Pereira
Molecular characterization of phenylketonuria in South Brazil.
Molecular genetics and metabolism 2003;79(1):17-24.
2003: A Miller; L K Brown; GM Pastores; Robert J Desnick
Pulmonary involvement in type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease.
Clinical genetics 2003;63(5):368-76.
2003: Tamar Ben-Yosef; Seth L Ness; Anne C Madeo; Adi Bar-Lev; Jessica H Wolfman; Zubair M Ahmed; Robert J Desnick; Judith P Willner; Karen B Avraham; Harry Ostrer; Carole Oddoux; Andrew J Griffith; Thomas B Friedman
A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
The New England journal of medicine 2003;348(17):1664-70.
2003: Melissa P Wasserstein; Alexandra E Larkin; Ronald B J Glass; Edward H Schuchman; Robert J Desnick; Margaret M McGovern
Growth restriction in children with type B Niemann-Pick disease.
The Journal of pediatrics 2003;142(4):424-8.
2003: Robert J Desnick; Roscoe Brady; John A Barranger; Allan J Collins; Dominique P Germain; Martin Goldman; Gregory A Grabowski; Seymour Packman; William R Wilcox
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
Annals of internal medicine 2003;138(4):338-46.
2002: Robert J Desnick; Edward H Schuchman
Enzyme replacement and enhancement therapies: lessons from lysosomal disorders.
Nature reviews. Genetics 2002;3(12):954-66.
2002: Beth L Thurberg; Helmut Rennke; Robert Colvin; Steven Dikman; Ronald E Gordon; A Bernard Collins; Robert J Desnick; Michael O'Callaghan
Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy.
Kidney international 2002;62(6):1933-46.
2002: Calogera M Simonaro; Robert J Desnick; Margaret M McGovern; Melissa P Wasserstein; Edward H Schuchman
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
American journal of human genetics 2002;71(6):1413-9.
2002: Michael S Watson; Robert J Desnick; Wayne W Grody; Michael T Mennuti; Bradley W Popovich; Carolyn S (Sue) Richards
Cystic fibrosis carrier screening: issues in implementation.
Genetics in medicine : official journal of the American College of Medical Genetics 2002;4(6):407-9.
2002: Jianli Dong; Lisa Edelmann; Asghar M Bajwa; Ruth Kornreich; Robert J Desnick
Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews.
American journal of medical genetics 2002;110(3):253-7.
2002: Befekadu Asfaw; Jana Ledvinová; Robert Dobrovolńy; Henk D Bakker; Robert J Desnick; Otto P van Diggelen; Jan G N de Jong; Tamotsu Kanzaki; Amparo Chabas; Irène Maire; Ernst Conzelmann; Detlev Schindler
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
Journal of lipid research 2002;43(7):1096-104.
2002: Dominique P Germain; Junaid Shabbeer; Sylvie Cotigny; Robert J Desnick
Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
Molecular medicine (Cambridge, Mass.) 2002;8(6):306-12.
2002: Amr A Shady; Brandon R Colby; Luis F Cunha; Kenneth H Astrin; David F Bishop; Robert J Desnick
Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene.
British journal of haematology 2002;117(4):980-7.
2002: Robert J Desnick; Kenneth H Astrin
Congenital erythropoietic porphyria: advances in pathogenesis and treatment.
British journal of haematology 2002;117(4):779-95.
2002: Chester Li; Robin J Ziegler; Maribeth Cherry; Michael Lukason; Robert J Desnick; Nelson S Yew; Seng Cheng
Adenovirus-transduced lung as a portal for delivering alpha-galactosidase A into systemic circulation for Fabry disease.
Molecular therapy : the journal of the American Society of Gene Therapy 2002;5(6):745-54.
2002: Robin J Ziegler; Chester Li; Maribeth Cherry; Yunxiang Zhu; Donna Hempel; Nico van Rooijen; Yiannis A Ioannou; Robert J Desnick; Mark A Goldberg; Nelson S Yew; Seng Cheng
Correction of the nonlinear dose response improves the viability of adenoviral vectors for gene therapy of Fabry disease.
Human gene therapy 2002;13(8):935-45.
2002: Junaid Shabbeer; Makiko Yasuda; Edlira Luca; Robert J Desnick
Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype.
Molecular genetics and metabolism 2002;76(1):23-30.
2002: Grace A Ashley; Robert J Desnick; Ronald E Gordon; Jon W Gordon
High overexpression of the human alpha-galactosidase A gene driven by its promoter in transgenic mice: implications for the treatment of Fabry disease.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2002;50(3):185-92.
2002: Lisa Edelmann; Jianli Dong; Robert J Desnick; Ruth Kornreich
Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.
American journal of human genetics 2002;70(4):1023-7.
2002: Satoshi Ishii; Shoichiro Nakao; Reiko Minamikawa-Tachino; Robert J Desnick; Jian-Qiang Fan
Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.
American journal of human genetics 2002;70(4):994-1002.
2002: Robert J Desnick; Maryam Banikazemi; Melissa P Wasserstein
Enzyme replacement therapy for Fabry disease, an inherited nephropathy.
Clinical nephrology 2002;57(1):1-8.
2001: C M Eng; Nathalie Guffon; William R Wilcox; Dominique P Germain; P Lee; Stephen Waldek; L Caplan; Gabor E Linthorst; Robert J Desnick
Safety and efficacy of recombinant human alpha-galactosidase A--replacement therapy in Fabry's disease.
The New England journal of medicine 2001;345(1):9-16.
2001: John A Martignetti; A A Aqeel; W A Sewairi; C E Boumah; Marios Kambouris; S A Mayouf; K V Sheth; W A Eid; Oonagh Dowling; J Harris; Marc J Glucksman; S Bahabri; Brian F Meyer; Robert J Desnick
Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.
Nature genetics 2001;28(3):261-5.
2001: R E Zinberg; Ruth Kornreich; Lisa Edelmann; Robert J Desnick
Prenatal genetic screening in the Ashkenazi Jewish population.
Clinics in perinatology 2001;28(2):367-82.
2001: Jianli Dong; D R Katz; Christine M Eng; Ruth Kornreich; Robert J Desnick
Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews.
Molecular genetics and metabolism 2001;73(2):160-3.
2001: A Maddalena; Carolyn S (Sue) Richards; M J McGinniss; Arthur R Brothman; Robert J Desnick; R E Grier; B Hirsch; Peter B Jacky; Geraldine A McDowell; Bradley W Popovich; M Watson; Daynna J Wolff
Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(3):200-5.
2001: Robert J Desnick
Enzyme replacement and beyond.
Journal of inherited metabolic disease 2001;24(2):251-65.
2001: Pradip N Akolkar; Beena Gulwani-Akolkar; Xing-Yu Lin; Z Zhou; M Daly; Seymour Katz; Jeremiah Levine; D Present; B Gelb; Robert J Desnick; L Mayer; Jack Silver
The IBD1 locus for susceptibility to Crohn's disease has a greater impact in Ashkenazi Jews with early onset disease.
The American journal of gastroenterology 2001;96(4):1127-32.
2001: Wayne W Grody; Garry R Cutting; K W Klinger; Carolyn S (Sue) Richards; Michael S Watson; Robert J Desnick
Laboratory standards and guidelines for population-based cystic fibrosis carrier screening.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(2):149-54.
2001: Constanza Solis; GI Aizencang; Kenneth H Astrin; David F Bishop; Robert J Desnick
Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria.
The Journal of clinical investigation 2001;107(6):753-62.
2001: Christine M Eng; Maryam Banikazemi; Ronald E Gordon; Martin Goldman; Robert Phelps; L Kim; A Gass; Jonathan Winston; Steven Dikman; J T Fallon; Scott E Brodie; C B Stacy; D Mehta; R Parsons; Karen I Norton; Michael O'Callaghan; Robert J Desnick
A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies.
American journal of human genetics 2001;68(3):711-22.
2001: Robert J Desnick; Melissa P Wasserstein
Fabry disease: clinical features and recent advances in enzyme replacement therapy.
Advances in nephrology from the Necker Hospital 2001;31():317-39.
2001: Robert J Desnick; Melissa P Wasserstein; Maryam Banikazemi
Fabry disease (alpha-galactosidase A deficiency): renal involvement and enzyme replacement therapy.
Contributions to nephrology 2001;(136):174-92.
2001: Robert J Desnick; M M Kaback
Future perspectives for Tay-Sachs disease.
Advances in genetics 2001;44():349-56.
2001: Christine M Eng; Robert J Desnick
Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases.
Advances in genetics 2001;44():275-96.
2001: Grace A Ashley; Junaid Shabbeer; Makiko Yasuda; Christine M Eng; Robert J Desnick
Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype.
Journal of human genetics 2001;46(4):192-6.
2001: Yiannis A Ioannou; KM Zeidner; Ronald E Gordon; Robert J Desnick
Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice.
American journal of human genetics 2001;68(1):14-25.
2000: GI Aizencang; Constanza Solis; David F Bishop; C Warner; Robert J Desnick
Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression.
Genomics 2000;70(2):223-31.
2000: SR Miranda; Xingxuan He; Calogera M Simonaro; Shimon Gatt; Arie Dagan; Robert J Desnick; Edward H Schuchman
Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology.
FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2000;14(13):1988-95.
2000: R B Ramdall; L Cunha; Kenneth H Astrin; D R Katz; Karl E Anderson; Marc J Glucksman; S S Bottomley; Robert J Desnick
Acute intermittent porphyria: novel missense mutations in the human hydroxymethylbilane synthase gene.
Genetics in medicine : official journal of the American College of Medical Genetics 2000;2(5):290-5.
2000: Marco Seri; Roberto Cusano; Simone Gangarossa; Gianluca Caridi; Domenico Bordo; Cristiana Lo Nigro; Gian Marco Ghiggeri; Roberto Ravazzolo; Maria Savino; M Del Vecchio; Maria D'Apolito; Achille Iolascon; Leopoldo Zelante; Anna Savoia; Carlo L Balduini; Patrizia Noris; Umberto Magrini; S Belletti; Karen E Heath; M Babcock; Marc J Glucksman; E Aliprandis; Nicola Bizzaro; Robert J Desnick; John A Martignetti
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Nature genetics 2000;26(1):103-5.
2000: Patricia Ashton-Prolla; B Tong; Junaid Shabbeer; Kenneth H Astrin; Christine M Eng; Robert J Desnick
Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
Journal of investigative medicine : the official publication of the American Federation for Clinical Research 2000;48(4):227-35.
2000: George A Diaz; Bruce D Gelb; N Risch; T G Nygaard; A Frisch; Ian Cohen; C S Miranda; Olga Amaral; I Maire; Livia Poenaru; Catherine Caillaud; M Weizberg; Pramod Mistry; Robert J Desnick
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations.
American journal of human genetics 2000;66(6):1821-32.
2000: John A Martignetti; Karen E Heath; J Harris; Nicola Bizzaro; Anna Savoia; Carlo L Balduini; Robert J Desnick
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1.
American journal of human genetics 2000;66(4):1449-54.
2000: John A Martignetti; Bruce D Gelb; H Pierce; Piero Picci; Robert J Desnick
Malignant fibrous histiocytoma: inherited and sporadic forms have loss of heterozygosity at chromosome bands 9p21-22-evidence for a common genetic defect.
Genes, chromosomes & cancer 2000;27(2):191-5.
2000: GI Aizencang; David F Bishop; D Forrest; Kenneth H Astrin; Robert J Desnick
Uroporphyrinogen III synthase. An alternative promoter controls erythroid-specific expression in the murine gene.
The Journal of biological chemistry 2000;275(4):2295-304.
2000: Robert J Desnick; B Korf; Miriam G Blitzer; Robert A. Saul
Summary of the Association of Professors of Human and Medical Genetics Fourth Annual Workshop.
American journal of medical genetics 2000;90(2):169-72.
1999: A K Topaloglu; Grace A Ashley; B Tong; Junaid Shabbeer; Kenneth H Astrin; Christine M Eng; Robert J Desnick
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Molecular medicine (Cambridge, Mass.) 1999;5(12):806-11.
1999: Adriana De Siervi; María V Rossetti; Victoria E Parera; Kenneth H Astrin; GI Aizencang; IA Glass; Alcira Batlle; Robert J Desnick
Identification and characterization of hydroxymethylbilane synthase mutations causing acute intermittent porphyria: evidence for an ancestral founder of the common G111R mutation.
American journal of medical genetics 1999;86(4):366-75.
1999: Constanza Solis; I Lopez-Echaniz; D Sefarty-Graneda; Kenneth H Astrin; Robert J Desnick
Identification and expression of mutations in the hydroxymethylbilane synthase gene causing acute intermittent porphyria (AIP).
Molecular medicine (Cambridge, Mass.) 1999;5(10):664-71.
1999: Melissa P Wasserstein; Sreedhar Gaddipati; Selma E Snyderman; Keith A Eddleman; Robert J Desnick; Claude Sansaricq
Successful pregnancy in severe methylmalonic acidaemia.
Journal of inherited metabolic disease 1999;22(7):788-94.
1999: Robin J Ziegler; Nelson S Yew; Chester Li; Maribeth Cherry; P Berthelette; H Romanczuk; Yiannis A Ioannou; KM Zeidner; Robert J Desnick; Seng Cheng
Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer.
Human gene therapy 1999;10(10):1667-82.
1999: George A Diaz; Maryam Banikazemi; Kimihiko Oishi; Robert J Desnick; Bruce D Gelb
Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome.
Nature genetics 1999;22(3):309-12.
1999: Patricia Ashton-Prolla; Grace A Ashley; Roberto Giugliani; Ricardo F Pires; Robert J Desnick; Christine M Eng
Fabry disease: comparison of enzymatic, linkage, and mutation analysis for carrier detection in a family with a novel mutation (30delG).
American journal of medical genetics 1999;84(5):420-4.
1999: Melissa P Wasserstein; John A Martignetti; R Zeitlin; Harry Lumerman; M Solomon; Marie E Grace; Robert J Desnick
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation.
American journal of medical genetics 1999;84(4):334-9.
1999: Xingxuan He; Chi-Ming Li; Calogera M Simonaro; Qiang Wan; Mark E Haskins; Robert J Desnick; Edward H Schuchman
Identification and characterization of the molecular lesion causing mucopolysaccharidosis type I in cats.
Molecular genetics and metabolism 1999;67(2):106-12.
1999: Margaret M McGovern; Marta Benach; Sylvan Wallenstein; Robert J Desnick; R Keenlyside
Quality assurance in molecular genetic testing laboratories.
JAMA : the journal of the American Medical Association 1999;281(9):835-40.
1999: Marie E Grace; Patricia Ashton-Prolla; G M Pastores; A Soni; Robert J Desnick
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease.
The Journal of clinical investigation 1999;103(6):817-23.
1999: Wu-Shiun Hou; Dieter Brömme; Y Zhao; Ernest L Mehler; C Dushey; HAREL WEINSTEIN; C S Miranda; C Fraga; Fenella Greig; J Carey; D L Rimoin; Robert J Desnick; Bruce D Gelb
Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.
The Journal of clinical investigation 1999;103(5):731-8.
1999: Maryam Banikazemi; George A Diaz; P Vossough; M Jalali; Robert J Desnick; Bruce D Gelb
Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23.
Molecular genetics and metabolism 1999;66(3):193-8.
1999: John A Martignetti; Robert J Desnick; E Aliprandis; Karen I Norton; P Hardcastle; S Nade; Bruce D Gelb
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: a hereditary bone dysplasia/cancer syndrome maps to 9p21-22.
American journal of human genetics 1999;64(3):801-7.
1999: A K Topaloglu; Claude Sansaricq; Joyce Fox; A E Bale; Mendel Tuchman; Robert J Desnick
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.
Journal of inherited metabolic disease 1999;22(1):82-3.
1999: KM Zeidner; Robert J Desnick; Yiannis A Ioannou
Quantitative determination of globotriaosylceramide by immunodetection of glycolipid-bound recombinant verotoxin B subunit.
Analytical biochemistry 1999;267(1):104-13.
1998: Ilhan Tezcan; W Xu; Aytemiz Gurgey; M Tuncer; Mualla Cetin; Cihan Oner; Sevgi Yetgin; Fügen Ersoy; GI Aizencang; Kenneth H Astrin; Robert J Desnick
Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation.
Blood 1998;92(11):4053-8.
1998: M Mendez; L Sorkin; María V Rossetti; Kenneth H Astrin; Alcira M Del C Batlle; Victoria E Parera; GI Aizencang; Robert J Desnick
Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.
American journal of human genetics 1998;63(5):1363-75.
1998: A M Wang; Yiannis A Ioannou; KM Zeidner; Robert J Desnick
Murine alpha-N-acetylgalactosaminidase: isolation and expression of a full-length cDNA and genomic organization: further evidence of an alpha-galactosidase gene family.
Molecular genetics and metabolism 1998;65(2):165-73.
1998: R Kauppinen; IA Glass; GI Aizencang; Kenneth H Astrin; George F Atweh; Robert J Desnick
Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.
Molecular genetics and metabolism 1998;65(1):10-7.
1998: L Li; Christine M Eng; Robert J Desnick; James German; Nathan Ellis
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.
Molecular genetics and metabolism 1998;64(4):286-90.
1998: Philip D Cotter; A Babu; JP Willner; Robert J Desnick
Prenatal diagnosis and outcome of mosaicism for a de novo unbalanced translocation identified in amniocytes.
Prenatal diagnosis 1998;18(8):857-61.
1998: Thomas Wex; B Levy; S P Smeekens; S Ansorge; Robert J Desnick; Dieter Bromme
Genomic structure, chromosomal localization, and expression of human cathepsin W.
Biochemical and biophysical research communications 1998;248(2):255-61.
1998: Yiannis A Ioannou; KM Zeidner; Marie E Grace; Robert J Desnick
Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility.
The Biochemical journal 1998;332 ( Pt 3)():789-97.
1998: Robert J Desnick; E H Schuchman
Gene therapy for genetic diseases.
Acta paediatrica Japonica; Overseas edition 1998;40(3):191-203.
1998: Bruce D Gelb; J P Willner; Teresa M Dunn; Nataline B Kardon; Alain Verloes; J Poncin; Robert J Desnick
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis.
American journal of human genetics 1998;62(4):848-54.
1998: Robert J Desnick
Association of Professors of Human and Medical Genetics: summary of the third annual workshop.
American journal of medical genetics 1998;75(3):318-25.
1998: Robert J Desnick; IA Glass; W Xu; Constanza Solis; Kenneth H Astrin
Molecular genetics of congenital erythropoietic porphyria.
Seminars in liver disease 1998;18(1):77-84.
1997: Patricia Ashton-Prolla; IF Gershin; A Babu; R L Neu; Randi E Zinberg; JP Willner; Robert J Desnick; Philip D Cotter
Prenatal diagnosis of a familial interchromosomal insertion of Y chromosome heterochromatin.
American journal of medical genetics 1997;73(4):470-3.
1997: S R Manea; IF Gershin; A Babu; JP Willner; Robert J Desnick; Philip D Cotter
Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X).
Clinical genetics 1997;52(6):432-5.
1997: Christine M Eng; Clyde Schechter; J Robinowitz; G Fulop; T Burgert; B Levy; Randi E Zinberg; Robert J Desnick
Prenatal genetic carrier testing using triple disease screening.
JAMA : the journal of the American Medical Association 1997;278(15):1268-72.
1997: T F Fitzmaurice; Robert J Desnick; David F Bishop
Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.
Journal of inherited metabolic disease 1997;20(5):643-57.
1997: I Medintz; L Levine; Leslie D McCurdy; Luis Chiriboga; C Kingston; D Crim; Robert J Desnick; Christine M Eng; L Kobilinsky
HLA-DQA1 and polymarker allele frequencies in two New York City Jewish populations.
Journal of forensic sciences 1997;42(5):919-22.
1997: M Caggana; Grace A Ashley; Robert J Desnick; Christine M Eng
Fabry disease: molecular carrier detection and prenatal diagnosis by analysis of closely linked polymorphisms at Xq22.1.
American journal of medical genetics 1997;71(3):329-35.
1997: Philip D Cotter; Leslie D McCurdy; IF Gershin; A Babu; JP Willner; Robert J Desnick
Prenatal detection and molecular characterization of a de novo duplication of the distal long arm of chromosome 19.
American journal of medical genetics 1997;71(3):325-8.
1997: Marie E Grace; Robert J Desnick; G M Pastores
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
The Journal of clinical investigation 1997;99(10):2530-7.
1997: Bruce D Gelb; G P Shi; M Heller; S Weremowicz; C Morton; Robert J Desnick; H A Chapman
Structure and chromosomal assignment of the human cathepsin K gene.
Genomics 1997;41(2):258-62.
1997: L K Brown; A Miller; A Bhuptani; M F Sloane; M I Zimmerman; Gregory J Schilero; C M Eng; Robert J Desnick
Pulmonary involvement in Fabry disease.
American journal of respiratory and critical care medicine 1997;155(3):1004-10.
1997: Christine M Eng; Grace A Ashley; T S Burgert; Annette L D Enriquez; M D'Souza; Robert J Desnick
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Molecular medicine (Cambridge, Mass.) 1997;3(3):174-82.
1997: Bruce D Gelb; J Zhang; Philip D Cotter; IF Gershin; Robert J Desnick
Physical mapping of the human connexin 40 (GJA5), flavin-containing monooxygenase 5, and natriuretic peptide receptor a genes on 1q21.
Genomics 1997;39(3):409-11.
1997: Philip D Cotter; A Babu; Leslie D McCurdy; Michele Caggana; JP Willner; Robert J Desnick
Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases.
Annales de génétique 1997;40(4):222-6.
1997: Brynn Levy; IF Gershin; Robert J Desnick; A Babu; Bruce D Gelb; Kurt Hirschhorn; Philip D Cotter
Characterization of a de novo unbalanced chromosome rearrangement by comparative genomic hybridization and fluorescence in situ hybridization.
Cytogenetics and cell genetics 1997;76(1-2):68-71.
1996: J Koch; S Gärtner; Chi-Ming Li; L E Quintern; K Bernardo; O Levran; D Schnabel; Robert J Desnick; Edward H Schuchman; Konrad Sandhoff
Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease.
The Journal of biological chemistry 1996;271(51):33110-5.
1996: Philip D Cotter; M Caggana; JP Willner; A Babu; Robert J Desnick
Prenatal diagnosis of a fetus with two balanced de novo chromosome rearrangements.
American journal of medical genetics 1996;66(2):197-9.
1996: Bruce D Gelb; K Moissoglu; J Zhang; John A Martignetti; D Brömme; Robert J Desnick
Cathepsin K: isolation and characterization of the murine cDNA and genomic sequence, the homologue of the human pycnodysostosis gene.
Biochemical and molecular medicine 1996;59(2):200-6.
1996: G M Pastores; S Wallenstein; Robert J Desnick; M M Luckey
Bone density in Type 1 Gaucher disease.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 1996;11(11):1801-7.
1996: Bruce D Gelb; Guo-Ping Shi; Harold A Chapman; Robert J Desnick
Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
Science (New York, N.Y.) 1996;273(5279):1236-8.
1996: Bruce D Gelb; E Spencer; S Obad; G J Edelson; S Faure; J Weissenbach; Robert J Desnick
Pycnodysostosis: refined linkage and radiation hybrid analyses reduce the critical region to 2 cM at 1q21 and map two candidate genes.
Human genetics 1996;98(2):141-4.
1996: G M Pastores; George Hermann; Karen I Norton; Mordechai Lorberboym; Robert J Desnick
Regression of skeletal changes in type 1 Gaucher disease with enzyme replacement therapy.
Skeletal radiology 1996;25(5):485-8.
1996: C Wu; W Xu; C A Kozak; Robert J Desnick
Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping.
Mammalian genome : official journal of the International Mammalian Genome Society 1996;7(5):349-52.
1996: Y Qu; J E Abdenur; Christine M Eng; Robert J Desnick
Molecular prenatal diagnosis of glycogen storage disease type Ia.
Prenatal diagnosis 1996;16(4):333-6.
1996: R W Gotlib; David F Bishop; A M Wang; KM Zeidner; Yiannis A Ioannou; D A Adler; C M Disteche; Robert J Desnick
The entire genomic sequence and cDNA expression of mouse alpha-galactosidase A.
Biochemical and molecular medicine 1996;57(2):139-48.
1996: W Xu; Kenneth H Astrin; Robert J Desnick
Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene.
Human mutation 1996;7(3):187-92.
1995: Christine M Eng; Susan A Slaugenhaupt; Anat Blumenfeld; Felicia B Axelrod; James Gusella; Robert J Desnick
Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33.
American journal of medical genetics 1995;59(3):349-55.
1995: T Kunieda; Calogera M Simonaro; M Yoshida; H Ikadai; G Levan; Robert J Desnick; Edward H Schuchman
Mucopolysaccharidosis type VI in rats: isolation of cDNAs encoding arylsulfatase B, chromosomal localization of the gene, and identification of the mutation.
Genomics 1995;29(3):582-7.
1995: Tsutomu Takahashi; M Suchi; W Sato; S B Ten; N Sakuragawa; Robert J Desnick; Edward H Schuchman; Goro Takada
Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.
The Tohoku journal of experimental medicine 1995;177(2):117-23.
1995: Z Saifudeen; Robert J Desnick; M Ehrlich
A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding.
FEBS letters 1995;371(2):181-4.
1995: D E Wolfe; D Schindler; Robert J Desnick
Neuroaxonal dystrophy in infantile alpha-N-acetylgalactosaminidase deficiency.
Journal of the neurological sciences 1995;132(1):44-56.
1995: Bruce D Gelb; E Cooper; M Shevell; Robert J Desnick
Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion.
American journal of medical genetics 1995;58(2):200-5.
1995: G Y Lee; Kenneth H Astrin; Robert J Desnick
Acute intermittent porphyria: a single-base deletion and a nonsense mutation in the human hydroxymethylbilane synthase gene, predicting truncations of the enzyme polypeptide.
American journal of medical genetics 1995;58(2):155-8.
1995: P L Yeyati; V Agmon; C Fillat; Tama Dinur; Arie Dagan; Robert J Desnick; Shimon Gatt; Edward H Schuchman
Fluorescence-based selection of retrovirally transduced cells in the absence of a marker gene: direct selection of transduced type B Niemann-Pick disease cells and evidence for bystander correction.
Human gene therapy 1995;6(8):975-83.
1995: K Horinouchi; S Erlich; Daniel P Perl; Klaus Ferlinz; C L Bisgaier; Konrad Sandhoff; Robert J Desnick; C L Stewart; Edward H Schuchman
Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.
Nature genetics 1995;10(3):288-93.
1995: K Bernardo; R Hurwitz; T Zenk; Robert J Desnick; Klaus Ferlinz; Edward H Schuchman; Konrad Sandhoff
Purification, characterization, and biosynthesis of human acid ceramidase.
The Journal of biological chemistry 1995;270(19):11098-102.
1995: W Xu; C A Kozak; Robert J Desnick
Uroporphyrinogen-III synthase: molecular cloning, nucleotide sequence, expression of a mouse full-length cDNA, and its localization on mouse chromosome 7.
Genomics 1995;26(3):556-62.
1995: W Xu; C A Warner; Robert J Desnick
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
The Journal of clinical investigation 1995;95(2):905-12.
1995: G M Pastores; George Hermann; K Norton; Robert J Desnick
Resolution of a proximal humeral defect in type-1 Gaucher disease by enzyme replacement therapy.
Pediatric radiology 1995;25(6):486-7.
1994: C H Chen; Kenneth H Astrin; G Lee; Karl E Anderson; Robert J Desnick
Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme.
The Journal of clinical investigation 1994;94(5):1927-37.
1994: Christine M Eng; D J Niehaus; A L Enriquez; T S Burgert; M D Ludman; Robert J Desnick
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Human molecular genetics 1994;3(10):1795-9.
1994: A M Wang; T Kanzaki; Robert J Desnick
The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.
The Journal of clinical investigation 1994;94(2):839-45.
1994: A H Kaya; M Plewinska; D M Wong; Robert J Desnick; James G Wetmur
Human delta-aminolevulinate dehydratase (ALAD) gene: structure and alternative splicing of the erythroid and housekeeping mRNAs.
Genomics 1994;19(2):242-8.
1994: Christine M Eng; Robert J Desnick
Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.
Human mutation 1994;3(2):103-11.
1994: Kenneth H Astrin; Robert J Desnick
Molecular basis of acute intermittent porphyria: mutations and polymorphisms in the human hydroxymethylbilane synthase gene.
Human mutation 1994;4(4):243-52.
1993: Christine M Eng; L A Resnick-Silverman; D J Niehaus; Kenneth H Astrin; Robert J Desnick
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
American journal of human genetics 1993;53(6):1186-97.
1993: O Levran; Robert J Desnick; Edward H Schuchman
Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.
Human molecular genetics 1993;2(2):205-6.
1993: H W Yoo; Kenneth H Astrin; Robert J Desnick
Comparison of enzyme and DNA analysis in a Tay-Sachs disease carrier screening program.
Journal of Korean medical science 1993;8(1):84-91.
1993: O Levran; Robert J Desnick; Edward H Schuchman
Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.
Human mutation 1993;2(4):317-9.
1993: R Kornreich; Robert J Desnick
Fabry disease: detection of gene rearrangements in the human alpha-galactosidase A gene by multiplex PCR amplification.
Human mutation 1993;2(2):108-11.
1993: H W Yoo; C A Warner; C H Chen; Robert J Desnick
Hydroxymethylbilane synthase: complete genomic sequence and amplifiable polymorphisms in the human gene.
Genomics 1993;15(1):21-9.
1992: Tama Dinur; Edward H Schuchman; Eitan Fibach; Arie Dagan; M Suchi; Robert J Desnick; Shimon Gatt
Toward gene therapy for Niemann-Pick disease (NPD): separation of retrovirally corrected and noncorrected NPD fibroblasts using a novel fluorescent sphingomyelin.
Human gene therapy 1992;3(6):633-9.
1992: Yiannis A Ioannou; David F Bishop; Robert J Desnick
Overexpression of human alpha-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion.
The Journal of cell biology 1992;119(5):1137-50.
1992: O Levran; Robert J Desnick; Edward H Schuchman
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients.
Blood 1992;80(8):2081-7.
1992: C E Jackson; N Yuhki; Robert J Desnick; M E Haskins; S J O'Brien; Edward H Schuchman
Feline arylsulfatase B (ARSB): isolation and expression of the cDNA, comparison with human ARSB, and gene localization to feline chromosome A1.
Genomics 1992;14(2):403-11.
1992: C A Warner; M B Poh-Fitzpatrick; E F Zaider; S F Tsai; Robert J Desnick
Congenital erythropoietic porphyria. A mild variant with low uroporphyrin I levels due to a missense mutation (A66V) encoding residual uroporphyrinogen III synthase activity.
Archives of dermatology 1992;128(9):1243-8.
1992: Tsutomu Takahashi; M Suchi; Robert J Desnick; Goro Takada; Edward H Schuchman
Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms.
The Journal of biological chemistry 1992;267(18):12552-8.
1992: R Kornreich; Kenneth H Astrin; Robert J Desnick
Amplification of human polymorphic sites in the X-chromosomal region q21.33 to q24: DXS17, DXS87, DXS287, and alpha-galactosidase A.
Genomics 1992;13(1):70-4.
1992: M Suchi; Tama Dinur; Robert J Desnick; Shimon Gatt; Lygia Pereira; Eli Gilboa; Edward H Schuchman
Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.
Proceedings of the National Academy of Sciences of the United States of America 1992;89(8):3227-31.
1992: W D Jin; C E Jackson; Robert J Desnick; Edward H Schuchman
Mucopolysaccharidosis type VI: identification of three mutations in the arylsulfatase B gene of patients with the severe and mild phenotypes provides molecular evidence for genetic heterogeneity.
American journal of human genetics 1992;50(4):795-800.
1992: H Sakuraba; Christine M Eng; Robert J Desnick; David F Bishop
Invariant exon skipping in the human alpha-galactosidase A pre-mRNA: Ag+1 to t substitution in a 5'-splice site causing Fabry disease.
Genomics 1992;12(4):643-50.
1992: Edward H Schuchman; O Levran; Lygia Pereira; Robert J Desnick
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1).
Genomics 1992;12(2):197-205.
1992: C A Warner; H W Yoo; A G Roberts; Robert J Desnick
Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene.
The Journal of clinical investigation 1992;89(2):693-700.
1992: T Takahashi; Robert J Desnick; G Takada; Edward H Schuchman
Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.
Human mutation 1992;1(1):70-1.
1991: James G Wetmur; G Lehnert; Robert J Desnick
The delta-aminolevulinate dehydratase polymorphism: higher blood lead levels in lead workers and environmentally exposed children with the 1-2 and 2-2 isozymes.
Environmental research 1991;56(2):109-19.
1991: James G Wetmur; A H Kaya; M Plewinska; Robert J Desnick
Molecular characterization of the human delta-aminolevulinate dehydratase 2 (ALAD2) allele: implications for molecular screening of individuals for genetic susceptibility to lead poisoning.
American journal of human genetics 1991;49(4):757-63.
1991: O Levran; Robert J Desnick; Edward H Schuchman
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
The Journal of clinical investigation 1991;88(3):806-10.
1991: W D Jin; Robert J Desnick; Edward H Schuchman
A common polymorphism in the human arylsulfatase B (ARSB) gene at 5q13-q14.
Nucleic acids research 1991;19(15):4305.
1991: Kenneth H Astrin; A H Kaya; James G Wetmur; Robert J Desnick
RsaI polymorphism in the human delta-aminolevulinate dehydratase gene at 9q34.
Nucleic acids research 1991;19(15):4307.
1991: M Plewinska; S Thunell; L Holmberg; James G Wetmur; Robert J Desnick
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote.
American journal of human genetics 1991;49(1):167-74.
1991: Edward H Schuchman; O Levran; M Suchi; Robert J Desnick
An MspI polymorphism in the human acid sphingomyelinase gene (SMPD1).
Nucleic acids research 1991;19(11):3160.
1991: Edward H Schuchman; M Suchi; Tsutomu Takahashi; Konrad Sandhoff; Robert J Desnick
Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs.
The Journal of biological chemistry 1991;266(13):8531-9.
1991: Kenneth H Astrin; C A Warner; H W Yoo; Paul J Goodfellow; S F Tsai; Robert J Desnick
Regional assignment of the human uroporphyrinogen III synthase (UROS) gene to chromosome 10q25.2----q26.3.
Human genetics 1991;87(1):18-22.
1991: O Levran; Robert J Desnick; Edward H Schuchman
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
Proceedings of the National Academy of Sciences of the United States of America 1991;88(9):3748-52.
1991: A M Wang; Robert J Desnick
Structural organization and complete sequence of the human alpha-N-acetylgalactosaminidase gene: homology with the alpha-galactosidase A gene provides evidence for evolution from a common ancestral gene.
Genomics 1991;10(1):133-42.
1991: W von Scheidt; Christine M Eng; T F Fitzmaurice; E Erdmann; G Hübner; E G Olsen; H Christomanou; R Kandolf; David F Bishop; Robert J Desnick
An atypical variant of Fabry's disease with manifestations confined to the myocardium.
The New England journal of medicine 1991;324(6):395-9.
1991: L da Veiga Pereira; Robert J Desnick; D A Adler; C M Disteche; Edward H Schuchman
Regional assignment of the human acid sphingomyelinase gene (SMPD1) by PCR analysis of somatic cell hybrids and in situ hybridization to 11p15.1----p15.4.
Genomics 1991;9(2):229-34.
1990: A M Wang; David F Bishop; Robert J Desnick
Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene.
The Journal of biological chemistry 1990;265(35):21859-66.
1990: A M Wang; D Schindler; Robert J Desnick
Schindler disease: the molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes an infantile neuroaxonal dystrophy.
The Journal of clinical investigation 1990;86(5):1752-6.
1990: D Schindler; T Kanzaki; Robert J Desnick
A method for the rapid detection of urinary glycopeptides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases.
Clinica chimica acta; international journal of clinical chemistry 1990;190(1-2):81-91.
1990: R Kornreich; David F Bishop; Robert J Desnick
Alpha-galactosidase A gene rearrangements causing Fabry disease. Identification of short direct repeats at breakpoints in an Alu-rich gene.
The Journal of biological chemistry 1990;265(16):9319-26.
1990: Robert J Desnick; A M Wang
Schindler disease: an inherited neuroaxonal dystrophy due to alpha-N-acetylgalactosaminidase deficiency.
Journal of inherited metabolic disease 1990;13(4):549-59.
1990: Edward H Schuchman; C E Jackson; Robert J Desnick
Human arylsulfatase B: MOPAC cloning, nucleotide sequence of a full-length cDNA, and regions of amino acid identity with arylsulfatases A and C.
Genomics 1990;6(1):149-58.
1989: L E Quintern; Edward H Schuchman; O Levran; M Suchi; Klaus Ferlinz; H Reinke; Konrad Sandhoff; Robert J Desnick
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.
The EMBO journal 1989;8(9):2469-73.
1989: D Schindler; David F Bishop; D E Wolfe; A M Wang; H Egge; R U Lemieux; Robert J Desnick
Neuroaxonal dystrophy due to lysosomal alpha-N-acetylgalactosaminidase deficiency.
The New England journal of medicine 1989;320(26):1735-40.
1989: R Kornreich; Robert J Desnick; David F Bishop
Nucleotide sequence of the human alpha-galactosidase A gene.
Nucleic acids research 1989;17(8):3301-2.
1989: Edward H Schuchman; S J O'Brien; Robert J Desnick
Assignment of the feline alpha-L-iduronidase gene to chromosome D4.
Genomics 1989;4(3):442-4.
1989: H S Bernstein; David F Bishop; Kenneth H Astrin; R Kornreich; Christine M Eng; H Sakuraba; Robert J Desnick
Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
The Journal of clinical investigation 1989;83(4):1390-9.
1989: Robert J Desnick; Kenneth H Astrin; David F Bishop
Fabry disease: molecular genetics of the inherited nephropathy.
Advances in nephrology from the Necker Hospital 1989;18():113-27.
1989: R Kornreich; David F Bishop; Robert J Desnick
The gene encoding alpha-galactosidase A and gene rearrangements causing Fabry disease.
Transactions of the Association of American Physicians 1989;102():30-43.
1989: Edward H Schuchman; T K Toroyan; M E Haskins; Robert J Desnick
Characterization of the defective beta-glucuronidase activity in canine mucopolysaccharidosis type VII.
Enzyme 1989;42(3):174-80.
1988: S F Tsai; David F Bishop; Robert J Desnick
Human uroporphyrinogen III synthase: molecular cloning, nucleotide sequence, and expression of a full-length cDNA.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(19):7049-53.
1988: David F Bishop; R Kornreich; Robert J Desnick
Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.
Proceedings of the National Academy of Sciences of the United States of America 1988;85(11):3903-7.
1988: K Osiecki-Newman; G Legler; M Grace; Tama Dinur; Shimon Gatt; Robert J Desnick; G A Grabowski
Human acid beta-glucosidase: inhibition studies using glucose analogues and pH variation to characterize the normal and Gaucher disease glycon binding sites.
Enzyme 1988;40(4):173-88.
1988: Edward H Schuchman; Robert J Desnick
Mucopolysaccharidosis type I subtypes. Presence of immunologically cross-reactive material and in vitro enhancement of the residual alpha-L-iduronidase activities.
The Journal of clinical investigation 1988;81(1):98-105.
1987: S F Tsai; David F Bishop; Robert J Desnick
Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria.
Analytical biochemistry 1987;166(1):120-33.
1987: K Osiecki-Newman; D Fabbro; G Legler; Robert J Desnick; G A Grabowski
Human acid beta-glucosidase: use of inhibitors, alternative substrates and amphiphiles to investigate the properties of the normal and Gaucher disease active sites.
Biochimica et biophysica acta 1987;915(1):87-100.
1987: S F Tsai; David F Bishop; Robert J Desnick
Purification and properties of uroporphyrinogen III synthase from human erythrocytes.
The Journal of biological chemistry 1987;262(3):1268-73.
1987: Kenneth H Astrin; David F Bishop; James G Wetmur; B Kaul; B Davidow; Robert J Desnick
delta-Aminolevulinic acid dehydratase isozymes and lead toxicity.
Annals of the New York Academy of Sciences 1987;514():23-9.
1987: Robert J Desnick; H S Bernstein; Kenneth H Astrin; David F Bishop
Fabry disease: molecular diagnosis of hemizygotes and heterozygotes.
Enzyme 1987;38(1-4):54-64.
1986: David F Bishop; D H Calhoun; H S Bernstein; P Hantzopoulos; M Quinn; Robert J Desnick
Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(13):4859-63.
1986: G A Grabowski; K Osiecki-Newman; Tama Dinur; D Fabbro; G Legler; Shimon Gatt; Robert J Desnick
Human acid beta-glucosidase. Use of conduritol B epoxide derivatives to investigate the catalytically active normal and Gaucher disease enzymes.
The Journal of biological chemistry 1986;261(18):8263-9.
1986: Tama Dinur; K M Osiecki; G Legler; Shimon Gatt; Robert J Desnick; G A Grabowski
Human acid beta-glucosidase: isolation and amino acid sequence of a peptide containing the catalytic site.
Proceedings of the National Academy of Sciences of the United States of America 1986;83(6):1660-4.
1986: M M McGovern; M D Ludman; M P Short; L Steinfeld; M Kattan; E L Raab; W Krivit; Robert J Desnick
Bone marrow transplantation in Maroteaux-Lamy syndrome (MPS type 6): status 40 months after BMT.
Birth defects original article series 1986;22(1):41-53.
1986: K M Osiecki-Newman; D Fabbro; Tama Dinur; S Boas; Shimon Gatt; G Legler; Robert J Desnick; G A Grabowski
Human acid beta-glucosidase: affinity purification of the normal placental and Gaucher disease splenic enzymes on N-alkyl-deoxynojirimycin-sepharose.
Enzyme 1986;35(3):147-53.
1985: D H Calhoun; David F Bishop; H S Bernstein; M Quinn; P Hantzopoulos; Robert J Desnick
Fabry disease: isolation of a cDNA clone encoding human alpha-galactosidase A.
Proceedings of the National Academy of Sciences of the United States of America 1985;82(21):7364-8.
1985: Shimon Gatt; T Dinur; K Osiecki; Robert J Desnick; G A Grabowski
Use of activators and inhibitors to define the properties of the active site of normal and Gaucher disease lysosomal beta-glucosidase.
Enzyme 1985;33(2):109-19.