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Marvin Natowicz

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Matthew R Ginsberg; Robert A Rubin; Marvin R Natowicz
Patterning of regional gene expression in autism: new complexity.
Wan-Ming Zhang; Marvin R Natowicz
Cerebrospinal fluid lactate and pyruvate concentrations and their ratio.
Penelope Hogarth; Michael C Kruer; Marvin R Natowicz; Lindsay Reese; Diana Rodriguez; Lynn Sanford; S H Subramony; Huong Tran; Wendy Wagoner; Callum Wilson; Randall L Woltjer; Elizabeth Berry-Kravis; Isabelle Desguerre; Andrea Diedrich; Robert T Egel; Nicola C Foulds; Jennifer G Goldman; Sarah Green; Allison Gregory; Simon R Hammans; Susan J Hayflick
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

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All Publications

2013: Matthew R Ginsberg; Robert A Rubin; Marvin R Natowicz
Patterning of regional gene expression in autism: new complexity.
Scientific reports 2013;3():1831.
2013: Wan-Ming Zhang; Marvin R Natowicz
Cerebrospinal fluid lactate and pyruvate concentrations and their ratio.
Clinical biochemistry 2013;46(7-8):694-7.
2013: Penelope Hogarth; Michael C Kruer; Marvin R Natowicz; Lindsay Reese; Diana Rodriguez; Lynn Sanford; S H Subramony; Huong Tran; Wendy Wagoner; Callum Wilson; Randall L Woltjer; Elizabeth Berry-Kravis; Isabelle Desguerre; Andrea Diedrich; Robert T Egel; Nicola C Foulds; Jennifer G Goldman; Sarah Green; Allison Gregory; Simon R Hammans; Susan J Hayflick
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.
Neurology 2013;80(3):268-75.
2012: Abrar Hussain; Christa Kruck; Joy Armistead; Lara Gushulak; Steven Pind; Barbara L Triggs-Raine; Marvin R Natowicz
The adult polyglucosan body disease mutation GBE1 c.1076A>C occurs at high frequency in persons of Ashkenazi Jewish background.
Biochemical and biophysical research communications 2012;426(2):286-8.
2012: Fanny Mochel; Marvin R Natowicz; J Michael Powers; Hanna Rosenmann; Raphael Schiffmann; Frédéric Sedel; Marjan E Steenweg; Marjo S van der Knaap; Mary Wallace; Hasan O Akman; Varda Barash; Alexis Brice; Bruno Barcelos Da Nobrega; Sophie Demeret; Alexandra Durr; Brent L Fogel; Roseline Froissart; J Moshe Gomori; Or Kakhlon; Pascal Laforêt; Richard Levy; Catherine Lubetzki; Thierry Maisonobe; Alexander Lossos
Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings.
Annals of neurology 2012;72(3):433-41.
2012: Matthew R Ginsberg; Robert A Rubin; Angela H Ting; Tatiana Falcone; Marvin R Natowicz
Brain transcriptional and epigenetic associations with autism.
PloS one 2012;7(9):e44736.
2010: Allison Chatel; Rick Hemming; Judith Hobert; Marvin R Natowicz; Barbara L Triggs-Raine; David C Merz
The C. elegans hyaluronidase: a developmentally significant enzyme with chondroitin-degrading activity at both acidic and neutral pH.
Matrix biology : journal of the International Society for Matrix Biology 2010;29(6):494-502.
2010: Beate Diehl; Michael S Lee; Janet R Reid; Craig D Nielsen; Marvin R Natowicz
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
Neurogenetics 2010;11(2):261-5.
2010: Curry L Koening; Carmen E Gota; Carol A Langford; Gary S Hoffman; Marvin R Natowicz
Serum chitotriosidase activity and Wegener's granulomatosis.
Clinical biochemistry 2010;43(4-5):512-4.
2010: Timothy Buie; Daniel B Campbell; George J Fuchs; Glenn T Furuta; Joseph Levy; Judith A van de Water; Agnes H Whitaker; Dan Atkins; Margaret L Bauman; Arthur L Beaudet; Edward G Carr; Michael D Gershon; Susan L Hyman; Pipop Jirapinyo; Harumi Jyonouchi; Koorosh Kooros; Rafail Kushak; Pat Levitt; Susan E Levy; Jeffery D Lewis; Katherine F Murray; Marvin R Natowicz; Aderbal Sabra; Barry K Wershil; Sharon C Weston; Lonnie Zeltzer; Harland Winter
Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus report.
Pediatrics 2010;125 Suppl 1():S1-18.
2009: Marvin R Natowicz; Shlomit Zuckerman
On treatability: considerations of treatment in the context of newborn screening.
Health matrix (Cleveland, Ohio : 1991) 2009;19(1):187-97.
2008: Jacqueline R Weissman; Richard I Kelley; Margaret L Bauman; Bruce Howard Cohen; Katherine F Murray; Rebecca L Mitchell; Rebecca L Kern; Marvin R Natowicz
Mitochondrial disease in autism spectrum disorder patients: a cohort analysis.
PloS one 2008;3(11):e3815.
2008: Ferruh Isman; Judith A Hobert; Jerry N Thompson; Marvin R Natowicz
Plasma chitotriosidase in lysosomal storage diseases.
Clinica chimica acta; international journal of clinical chemistry 2008;387(1-2):165-7.
2007: Nancy Kass; Amy M Medley; Marvin R Natowicz; Sara Chandros Hull; Ruth R Faden; Laura C Plantinga; Lawrence O Gostin
Access to health insurance: experiences and attitudes of those with genetic versus non-genetic medical conditions.
American journal of medical genetics. Part A 2007;143(7):707-17.
2007: Dianna C Martin; Brian L Mark; Barbara L Triggs-Raine; Marvin R Natowicz
Evaluation of the risk for Tay-Sachs disease in individuals of French Canadian ancestry living in new England.
Clinical chemistry 2007;53(3):392-8.
2006: Ilka Warshawsky; Olga B Chernova; Christian A Hübner; Reinhard Stindl; Marco Henneke; Andreas Gal; Marvin R Natowicz
Multiplex ligation-dependent probe amplification for rapid detection of proteolipid protein 1 gene duplications and deletions in affected males and carrier females with Pelizaeus-Merzbacher disease.
Clinical chemistry 2006;52(7):1267-75.
2006: Jennifer R L Friedman; Elizabeth A Thiele; Dong Wang; Kara B Levine; Erin K Cloherty; Heidi H Pfeifer; Darryl C De Vivo; Anthony Carruthers; Marvin R Natowicz
Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
Movement disorders : official journal of the Movement Disorder Society 2006;21(2):241-5.
2005: Marvin R Natowicz
Newborn screening--setting evidence-based policy for protection.
The New England journal of medicine 2005;353(9):867-70.
2005: Ilka Warshawsky; Richard A Rudick; Susan M Staugaitis; Marvin R Natowicz
Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.
Annals of neurology 2005;58(3):470-3.
2005: Ferruh Isman; Glenn E Palomaki; Marvin R Natowicz
Lysosomal enzymes in human peripheral blood mononuclear cells and granulocytes.
Clinical chemistry 2005;51(3):646-9.
2005: Summer Johnson; Nancy Kass; Marvin R Natowicz
Disclosure of personal medical information: differences among parents and affected adults for genetic and nongenetic conditions.
Genetic testing 2005;9(3):269-80.
2004: Nancy Kass; Sara Chandros Hull; Marvin R Natowicz; Ruth R Faden; Laura C Plantinga; Lawrence O Gostin; Julia Slutsman
Medical privacy and the disclosure of personal medical information: the beliefs and experiences of those with genetic and other clinical conditions.
American journal of medical genetics. Part A 2004;128A(3):261-70.
2004: Charles H Whitaker; Kevin J Felice; Marvin R Natowicz
Biopsy-proven alpha-glucosidase deficiency with normal lymphocyte enzyme activity.
Muscle & nerve 2004;29(3):440-2.
2004: Kelly Johnston Branda; Jerzy Tomczak; Marvin R Natowicz
Heterozygosity for Tay-Sachs and Sandhoff diseases in non-Jewish Americans with ancestry from Ireland, Great Britain, or Italy.
Genetic testing 2004;8(2):174-80.
2003: Robert Kleta; David J Aughton; Michael J Rivkin; Marjan Huizing; Erin T Strovel; Yair Anikster; Eduard Orvisky; Marvin R Natowicz; Donna Krasnewich; William A Gahl
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.
American journal of medical genetics. Part A 2003;120A(1):28-33.
2003: Rick A Martin; Rachel Slaugh; Marvin R Natowicz; Kayla Pearlman; Eduard Orvisky; Donna Krasnewich; Robert Kleta; Marjan Huizing; William A Gahl
Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.
American journal of medical genetics. Part A 2003;120A(1):23-7.
2003: Laura C Plantinga; Marvin R Natowicz; Nancy Kass; Sara Chandros Hull; Lawrence O Gostin; Ruth R Faden
Disclosure, confidentiality, and families: experiences and attitudes of those with genetic versus nongenetic medical conditions.
American journal of medical genetics. Part C, Seminars in medical genetics 2003;119C(1):51-9.
2003: Marvin R Natowicz; Ferruh Isman; Elizabeth M Prence; Patricia Cedrone; Jean J Allen
Rapid prenatal testing for human beta-glucuronidase deficiency (MPS VII).
Genetic testing 2003;7(3):241-3.
2003: Nancy Kass; Marvin R Natowicz; Sara Chandros Hull; Ruth R Faden; Laura C Plantinga; Lawrence O Gostin; Julia Slutsman
The use of medical records in research: what do patients want?
The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2003;31(3):429-33.
2002: Steven Pind; Elzbieta Slominski; Jill Mauthe; Kayla Pearlman; Kathryn J Swoboda; John A Wilkins; Patricia Sauder; Marvin R Natowicz
V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme.
The Journal of biological chemistry 2002;277(9):7136-43.
2002: Marvin R Natowicz; Elaine H Hiller
Addressing consumer grievances in medicine: policies and practices of newborn screening programs in the United States.
Genetic testing 2002;6(1):31-8.
2001: C F Ard; Marvin R Natowicz
A seat at the table: membership in federal advisory committees evaluating public policy in genetics.
American journal of public health 2001;91(5):787-90.
2000: Kevin J Felice; M Gomez Lira; Marvin R Natowicz; Margaret L Grunnet; G J Tsongalis; Anders A F Sima; R F Kaplan
Adult-onset MLD: a gene mutation with isolated polyneuropathy.
Neurology 2000;55(7):1036-9.
1999: Barbara L Triggs-Raine; Timothy J Salo; Hesheng Zhang; Brandy A Wicklow; Marvin R Natowicz
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(11):6296-300.
1997: Marvin R Natowicz; Catherine Ard
The commercialization of clinical genetics: an analysis of interrelations between academic centers and for-profit clinical genetics diagnostics companies.
Journal of genetic counseling 1997;6(3):337-55.
1997: E H Hiller; G Landenburger; Marvin R Natowicz
Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States.
American journal of public health 1997;87(8):1280-8.
1997: E M Prence; C A Jerome; Barbara L Triggs-Raine; Marvin R Natowicz
Heterozygosity for Tay-Sachs and Sandhoff diseases among Massachusetts residents with French Canadian background.
Journal of medical screening 1997;4(3):133-6.
1996: Marvin R Natowicz; E M Prence
Heterozygote screening for Tay-Sachs disease: past successes and future challenges.
Current opinion in pediatrics 1996;8(6):625-9.
1996: E M Prence; I Zalewski; Marvin R Natowicz
Unusual thermolability properties of beta-hexosaminidase: studies of enzyme from cultured cells and clinical implications.
American journal of medical genetics 1996;65(4):320-4.
1996: Marvin R Natowicz; M P Short; Y Wang; G R Dickersin; M C Gebhardt; D I Rosenthal; K B Sims; Andrew E Rosenberg
Clinical and biochemical manifestations of hyaluronidase deficiency.
The New England journal of medicine 1996;335(14):1029-33.
1996: M van Bael; Marvin R Natowicz; J Tomczak; E E Grebner; E M Prence
Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain.
Journal of medical genetics 1996;33(10):829-32.
1996: E M Prence; J Gleason; Marvin R Natowicz
Characterization of clinical assays for leukocyte and fibroblast alpha-N-acetylgalactosaminidase activities for the diagnosis of alpha-N-acetylgalactosaminidase deficiency.
Clinica chimica acta; international journal of clinical chemistry 1996;247(1-2):167-73.
1996: Marvin R Natowicz; Y Wang
Human serum hyaluronidase: characterization of a clinical assay.
Clinica chimica acta; international journal of clinical chemistry 1996;245(1):1-6.
1996: Marvin R Natowicz; E M Prence; P Chaturvedi; David S newburg
Urine sulfatides and the diagnosis of metachromatic leukodystrophy.
Clinical chemistry 1996;42(2):232-8.
1996: J S Alper; J K Alper; Marvin R Natowicz
EEOC compliance manual for the ADA and genetic discrimination.
American journal of medical genetics 1996;61(1):95.
1996: Lisa N Geller; Joseph S Alper; Paul R Billings; Carol I Barash; Jonathan R. Beckwith; Marvin R Natowicz
Individual, family, and societal dimensions of genetic discrimination: a case study analysis.
Science and engineering ethics 1996;2(1):71-88.
1995: Marvin R Natowicz; J M Stoler; E M Prence; L Liscum
Marked heterogeneity in Niemann-Pick disease, type C. Clinical and ultrastructural findings.
Clinical pediatrics 1995;34(4):190-7.
1995: Barbara L Triggs-Raine; M Richard; N Wasel; E M Prence; Marvin R Natowicz
Mutational analyses of Tay-Sachs disease: studies on Tay-Sachs carriers of French Canadian background living in New England.
American journal of human genetics 1995;56(4):870-9.
1994: Marvin R Natowicz; J E Evans
Abnormal bile acids in the Smith-Lemli-Opitz syndrome.
American journal of medical genetics 1994;50(4):364-7.
1994: Marvin R Natowicz; B Bejjani
Genetic disorders that masquerade as multiple sclerosis.
American journal of medical genetics 1994;49(2):149-69.
1994: J S Alper; L N Geller; C I Barash; P R Billings; V Laden; Marvin R Natowicz
Genetic discrimination and screening for hemochromatosis.
Journal of public health policy 1994;15(3):345-58.
1993: Z Cao; Marvin R Natowicz; M M Kaback; J S Lim-Steele; E M Prence; D Brown; T Chabot; Barbara L Triggs-Raine
A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
American journal of human genetics 1993;53(6):1198-205.
1993: J S Alper; Marvin R Natowicz
On establishing the genetic basis of mental disease.
Trends in neurosciences 1993;16(10):387-9.
1993: E M Prence; Marvin R Natowicz; I Zalewski
Unusual thermolability properties of leukocyte beta-hexosaminidase: implications in screening for carriers of Tay-Sachs disease.
Clinical chemistry 1993;39(9):1811-4.
1993: Marvin R Natowicz; J K Alper; J S Alper
Genetic conditions and the scope of the Americans with Disabilities Act.
American journal of human genetics 1993;53(2):534-5.
1993: J S Alper; Marvin R Natowicz
Genetic discrimination and the public entities and public accommodations Titles of the Americans with Disabilities Act.
American journal of human genetics 1993;53(1):26-32.
1993: E M Prence; Marvin R Natowicz
Unusual biochemical presentation of GM1 gangliosidosis: markedly elevated levels of multiple plasma lysosomal enzyme activities.
Journal of inherited metabolic disease 1993;16(5):897-8.
1992: M Fernandes; Feige Kaplan; Marvin R Natowicz; E Prence; E Kolodny; M Kaback; Peter Hechtman
A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.
Human molecular genetics 1992;1(9):759-61.
1992: Paul R Billings; Joseph S Alper; Jonathan R. Beckwith; Carol I Barash; Marvin R Natowicz
Reply to Hook and Lowden: the definition and implications of genetic discrimination.
American journal of human genetics 1992;51(4):903-5.
1992: Marvin R Natowicz; Jane K Alper; Joseph S Alper
Reply to Hook: genetic discrimination and public safety.
American journal of human genetics 1992;51(4):898-9.
1992: Marvin R Natowicz; J K Alper; J S Alper
Genetic discrimination and the Americans with Disabilities Act.
American journal of human genetics 1992;51(4):895-7.
1992: Barbara L Triggs-Raine; E H Mules; M M Kaback; J S Lim-Steele; C E Dowling; BR Akerman; Marvin R Natowicz; E E Grebner; R Navon; J P Welch
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.
American journal of human genetics 1992;51(4):793-801.
1992: E M Prence; Marvin R Natowicz
Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.
Clinical chemistry 1992;38(4):501-3.
1992: P R Billings; M A Kohn; MARGARET DE CUEVAS; Jonathan R. Beckwith; J S Alper; Marvin R Natowicz
Discrimination as a consequence of genetic testing.
American journal of human genetics 1992;50(3):476-82.
1992: Marvin R Natowicz; J K Alper; J S Alper
Genetic discrimination and the law.
American journal of human genetics 1992;50(3):465-75.
1992: Joseph Alroy; S H Schelling; J G Thalhammer; S S Raghavan; Marvin R Natowicz; E M Prence; U Orgad
Adult onset lysosomal storage disease in a Tibetan terrier: clinical, morphological and biochemical studies.
Acta neuropathologica 1992;84(6):658-63.
1992: BR Akerman; J Zielenski; Barbara L Triggs-Raine; E M Prence; Marvin R Natowicz; J S Lim-Steele; M M Kaback; E H Mules; George H Thomas; Joe Clarke
A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.
Human mutation 1992;1(4):303-9.
1991: Marvin R Natowicz; E M Prence; A Cajolet
Marked variation in blood beta-hexosaminidase in Gaucher disease.
Clinica chimica acta; international journal of clinical chemistry 1991;203(1):17-22.
1991: Marvin R Natowicz; J S Alper
Genetic screening: triumphs, problems, and controversies.
Journal of public health policy 1991;12(4):475-91.
1990: Barbara L Triggs-Raine; A S Feigenbaum; Marvin R Natowicz; Marie-Anne Skomorowski; S M Schuster; Joe T R Clarke; Don J Mahuran; E H Kolodny; Roy A Gravel
Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests.
The New England journal of medicine 1990;323(1):6-12.