Username

Password

Preview

Sign-in free and Explore the Exciting World of BiomedExperts:

Over 1.500.000 Profiles
More than 1.800 Organizations worldwide
State of the Art Network Visualizations

Manage your own Profile
Locate Experts in your Country/Region
Locate Experts in your 1. and 2. Level Network
Connect to Experts Worldwide

NetworkView

William Gahl

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

Research Profile (preview)

Disorders

Physiology

Mutation

Chemicals & Drugs

Anatomy

Sign-in to see full Profile

Sign-in to see all Coauthors

Publications

TOP 3
Gunay-Aygun Meral; Parisi Melissa A; Doherty Dan; Tuchman Maya; Tsilou Ekaterini; Kleiner David E; Huizing Marjan; Turkbey Baris; Choyke Peter; Guay-Woodford Lisa; Heller Theo; Szymanska Katarzyna; Johnson Colin A; Glass Ian; Gahl William A
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
Stanescu Horia; Wolfsberg Tyra G; Moreland R Travis; Ayub Mariam H; Erickson Elizabeth; Westbroek Wendy; Huizing Marjan; Gahl William A; Helip-Wooley Amanda
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Vincent Lisa M; Adams David; Hess Richard A; Ziegler Shira G; Tsilou Ekaterini; Golas Gretchen; O'Brien Kevin J; White James G; Huizing Marjan; Gahl William A
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

Sign-in to see all Publications

Sign in free and see...

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the visualized research activity
of experts around the globe

Sign-in to see more

Geonetwork of William Gahl (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

Sign-in to see more

All Publications

2009: Gunay-Aygun Meral; Parisi Melissa A; Doherty Dan; Tuchman Maya; Tsilou Ekaterini; Kleiner David E; Huizing Marjan; Turkbey Baris; Choyke Peter; Guay-Woodford Lisa; Heller Theo; Szymanska Katarzyna; Johnson Colin A; Glass Ian; Gahl William A
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome.
The Journal of pediatrics 2009;155(3):386-92.e1.
2009: Stanescu Horia; Wolfsberg Tyra G; Moreland R Travis; Ayub Mariam H; Erickson Elizabeth; Westbroek Wendy; Huizing Marjan; Gahl William A; Helip-Wooley Amanda
Identifying putative promoter regions of Hermansky-Pudlak syndrome genes by means of phylogenetic footprinting.
Annals of human genetics 2009;73(Pt 4):422-8.
2009: Vincent Lisa M; Adams David; Hess Richard A; Ziegler Shira G; Tsilou Ekaterini; Golas Gretchen; O'Brien Kevin J; White James G; Huizing Marjan; Gahl William A
Hermansky-Pudlak syndrome type 1 in patients of Indian descent.
Molecular genetics and metabolism 2009;97(3):227-33.
2009: Merideth Melissa A; Vincent Lisa M; Sparks Susan E; Hess Richard A; Manoli Irini; O'Brien Kevin J; Tsilou Ekaterina; White James G; Huizing Marjan; Gahl William A
Hermansky-Pudlak syndrome in two African-American brothers.
American journal of medical genetics. Part A 2009;149A(5):987-92.
2008: Gahl William A
Newborn screening for Wilson disease: does liquid chromatography-tandem mass spectrometry provide the solution?
Clinical chemistry 2008;54(12):1941-2.
2008: Klootwijk Riko D; Savelkoul Paul J M; Ciccone Carla; Manoli Irini; Caplen Natasha J; Krasnewich Donna M; Gahl William A; Huizing Marjan
Allele-specific silencing of the dominant disease allele in sialuria by RNA interference.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2008;22(11):3846-52.
2008: Gahl W A
Chemical individuality: concept and outlook.
Journal of inherited metabolic disease 2008;31(5):630-40.
2008: Westbroek Wendy; Tuchman Maya; Tinloy Bradford; De Wever Olivier; Vilboux Thierry; Hertz Jens M; Hasle Henrik; Heilmann Carsten; Helip-Wooley Amanda; Kleta Robert; Gahl William A
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
Molecular genetics and metabolism 2008;94(2):248-54.
2008: Merideth Melissa A; Gordon Leslie B; Clauss Sarah; Sachdev Vandana; Smith Ann C M; Perry Monique B; Brewer Carmen C; Zalewski Christopher; Kim H Jeffrey; Solomon Beth; Brooks Brian P; Gerber Lynn H; Turner Maria L; Domingo Demetrio L; Hart Thomas C; Graf Jennifer; Reynolds James C; Gropman Andrea; Yanovski Jack A; Gerhard-Herman Marie; Collins Francis S; Nabel Elizabeth G; Cannon Richard O; Gahl William A; Introne Wendy J
Phenotype and course of Hutchinson-Gilford progeria syndrome.
The New England journal of medicine 2008;358(6):592-604.
2008: Nazarian Ramin; Huizing Marjan; Helip-Wooley Amanda; Starcevic Marta; Gahl William A; Dell'Angelica Esteban C
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome.
Molecular genetics and metabolism 2008;93(2):134-44.
2008: Huizing Marjan; Helip-Wooley Amanda; Westbroek Wendy; Gunay-Aygun Meral; Gahl William A
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics.
Annual review of genomics and human genetics 2008;9():359-86.
2007: Westbroek Wendy; Adams David; Huizing Marjan; Koshoffer Amy; Dorward Heidi; Tinloy Bradford; Parkes Jennifer; Helip-Wooley Amanda; Kleta Robert; Tsilou Ekaterina; Duvernay Patrice; Digre Kathleen B; Creel Donnell J; White James G; Boissy Raymond E; Gahl William A
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype.
The Journal of investigative dermatology 2007;127(11):2674-7.
2007: Maynard D M; Heijnen H F G; Horne M K; White J G; Gahl W A
Proteomic analysis of platelet alpha-granules using mass spectrometry.
Journal of thrombosis and haemostasis : JTH 2007;5(9):1945-55.
2007: Gahl William A; Balog Joan Z; Kleta Robert
Nephropathic cystinosis in adults: natural history and effects of oral cysteamine therapy.
Annals of internal medicine 2007;147(4):242-50.
2007: Galeano Belinda; Klootwijk Riko; Manoli Irini; Sun MaoSen; Ciccone Carla; Darvish Daniel; Starost Matthew F; Zerfas Patricia M; Hoffmann Victoria J; Hoogstraten-Miller Shelley; Krasnewich Donna M; Gahl William A; Huizing Marjan
Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine.
The Journal of clinical investigation 2007;117(6):1585-94.
2007: Helip-Wooley Amanda; Westbroek Wendy; Dorward Heidi M; Koshoffer Amy; Huizing Marjan; Boissy Raymond E; Gahl William A
Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
The Journal of investigative dermatology 2007;127(6):1471-8.
2007: Huizing Marjan; Parkes Jennifer M; Helip-Wooley Amanda; White James G; Gahl William A
Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.
Platelets 2007;18(2):150-7.
2007: Chintala Sreenivasulu; Tan Jian; Gautam Rashi; Rusiniak Michael E; Guo Xiaoli; Li Wei; Gahl William A; Huizing Marjan; Spritz Richard A; Hutton Saunie; Novak Edward K; Swank Richard T
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules.
Blood 2007;109(4):1533-40.
2007: Tsilou Ekaterini; Zhou Min; Gahl William; Sieving Pamela C; Chan Chi-Chao
Ophthalmic manifestations and histopathology of infantile nephropathic cystinosis: report of a case and review of the literature.
Survey of ophthalmology 2007;52(1):97-105.
2007: Sparks Susan; Rakocevic Goran; Joe Galen; Manoli Irini; Shrader Joseph; Harris-Love Michael; Sonies Barbara; Ciccone Carla; Dorward Heidi; Krasnewich Donna; Huizing Marjan; Dalakas Marinos C; Gahl William A
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
BMC neurology 2007;7():3.
2006: Perry Monique B; Suwannarat Pim; Furst Gloria P; Gahl William A; Gerber Lynn H
Musculoskeletal findings and disability in alkaptonuria.
The Journal of rheumatology 2006;33(11):2280-5.
2006: Gunay-Aygun Meral; Avner Ellis D; Bacallao Robert L; Choyke Peter L; Flynn Joseph T; Germino Gregory G; Guay-Woodford Lisa; Harris Peter; Heller Theo; Ingelfinger Julie; Kaskel Frederick; Kleta Robert; LaRusso Nicholas F; Mohan Parvathi; Pazour Gregory J; Shneider Benjamin L; Torres Vicente E; Wilson Patricia; Zak Colleen; Zhou Jing; Gahl William A
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference.
The Journal of pediatrics 2006;149(2):159-64.
2006: Savelkoul Paul J M; Manoli Irini; Sparks Susan E; Ciccone Carla; Gahl William A; Krasnewich Donna M; Huizing Marjan
Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.
Molecular genetics and metabolism 2006;88(4):389-90.
2006: Zhou Min; Gradstein Libe; Gonzales John A; Tsilou Ekaterini T; Gahl William A; Chan Chi-Chao
Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.
Archives of ophthalmology 2006;124(7):1048-51.
2006: Tsilou Ekaterini T; Rubin Benjamin I; Reed George; Caruso Rafael C; Iwata Fumino; Balog Joan; Gahl William A; Kaiser-Kupfer Muriel I
Nephropathic cystinosis: posterior segment manifestations and effects of cysteamine therapy.
Ophthalmology 2006;113(6):1002-9.
2006: Ueda Masako; O'Brien Kevin; Rosing Douglas R; Ling Alexander; Kleta Robert; McAreavey Dorothea; Bernardini Isa; Gahl William A
Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation.
Clinical journal of the American Society of Nephrology : CJASN 2006;1(3):555-62.
2006: O'Brien Kevin; Hussain Nadeem; Warady Bradley A; Kleiner David E; Kleta Robert; Bernardini Isa; Heller Theo; Gahl William A
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2006;4(3):387-94.
2006: Gahl William A
Engulfed.
Molecular genetics and metabolism 2006;87(3):190-3.
2005: Sparks Susan E; Ciccone Carla; Lalor Molly; Orvisky Eduard; Klootwijk Riko; Savelkoul Paul J; Dalakas Marinos C; Krasnewich Donna M; Gahl William A; Huizing Marjan
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy.
Glycobiology 2005;15(11):1102-10.
2005: Morse Richard P; Kleta Robert; Alroy Joseph; Gahl William A
Novel form of intermediate salla disease: clinical and neuroimaging features.
Journal of child neurology 2005;20(10):814-6.
2005: Gottlieb Emily; Ciccone Carla; Darvish Daniel; Naiem-Cohen Shahrouz; Dalakas Marinos C; Savelkoul Paul J; Krasnewich Donna M; Gahl William A; Huizing Marjan
Single nucleotide polymorphisms in the dystroglycan gene do not correlate with disease severity in hereditary inclusion body myopathy.
Molecular genetics and metabolism 2005;86(1-2):244-9.
2005: Gradstein Libe; FitzGibbon Edmond J; Tsilou Ekaterini T; Rubin Benjamin I; Huizing Marjan; Gahl William A
Eye movement abnormalities in hermansky-pudlak syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus / American Association for Pediatric Ophthalmology and Strabismus 2005;9(4):369-78.
2005: Chintala Sreenivasulu; Li Wei; Lamoreux M Lynn; Ito Shosuke; Wakamatsu Kazumasa; Sviderskaya Elena V; Bennett Dorothy C; Park Young-Mee; Gahl William A; Huizing Marjan; Spritz Richard A; Ben Songtao; Novak Edward K; Tan Jian; Swank Richard T
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(31):10964-9.
2005: Griffin A E; Cobb B R; Anderson P D; Claassen D A; Helip-Wooley A; Huizing M; Gahl W A
Detection of hemizygosity in Hermansky-Pudlak syndrome by quantitative real-time PCR.
Clinical genetics 2005;68(1):23-30.
2005: Suwannarat Pim; O'Brien Kevin; Perry Monique B; Sebring Nancy; Bernardini Isa; Kaiser-Kupfer Muriel I; Rubin Benjamin I; Tsilou Ekaterina; Gerber Lynn H; Gahl William A
Use of nitisinone in patients with alkaptonuria.
Metabolism: clinical and experimental 2005;54(6):719-28.
2005: Zarzour Wafika; Kleta Robert; Frangoul Haydar; Suwannarat Pim; Jeong Anna; Kim Su Young; Wayne Alan S; Gunay-Aygun Meral; White James; Filipovich Alexandra H; Gahl William A
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome.
Molecular genetics and metabolism 2005;85(2):125-32.
2005: Sonies Barbara C; Almajid Phaedra; Kleta Robert; Bernardini Isa; Gahl William A
Swallowing dysfunction in 101 patients with nephropathic cystinosis: benefit of long-term cysteamine therapy.
Medicine 2005;84(3):137-46.
2005: Kleta Robert; Kaskel Frederick; Dohil Ranjan; Goodyer Paul; Guay-Woodford Lisa M; Harms Erik; Ingelfinger Julie R; Koch Vera H; Langman Craig B; Leonard Mary B; Mannon Roslyn B; Sarwal Minnie; Schneider Jerry A; Skovby Flemming; Sonies Barbara C; Thoene Jess G; Trauner Doris A; Gahl William A;
First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.
Pediatric nephrology (Berlin, Germany) 2005;20(4):452-4.
2005: Richmond Bonnie; Huizing Marjan; Knapp Jill; Koshoffer Amy; Zhao Yang; Gahl William A; Boissy Raymond E
Melanocytes derived from patients with Hermansky-Pudlak Syndrome types 1, 2, and 3 have distinct defects in cargo trafficking.
The Journal of investigative dermatology 2005;124(2):420-7.
2005: Tang Johnny; Tsilou Ekaterini; Caruso Rafael C; Rubin Benjamin; Gahl William A
Bilateral staphylomas in a patient with Hermansky-Pudlak syndrome.
Retina (Philadelphia, Pa.) 2005;25(1):99-100.
2005: Boissy Raymond E; Richmond Bonnie; Huizing Marjan; Helip-Wooley Amanda; Zhao Yang; Koshoffer Amy; Gahl William A
Melanocyte-specific proteins are aberrantly trafficked in melanocytes of Hermansky-Pudlak syndrome-type 3.
The American journal of pathology 2005;166(1):231-40.
2005: Spenny Michelle L; Suwannarat Pim; Gahl William A; Cowen Edward W
Blue pigmentation and arthritis in an elderly man.
Journal of the American Academy of Dermatology 2005;52(1):122-4.
2005: Helip-Wooley Amanda; Westbroek Wendy; Dorward Heidi; Mommaas Mieke; Boissy Raymond E; Gahl William A; Huizing Marjan
Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin.
BMC cell biology 2005;6():33.
2004: Suwannarat Pim; Phornphutkul Chanika; Bernardini Isa; Turner Maria; Gahl William A
Minocycline-induced hyperpigmentation masquerading as alkaptonuria in individuals with joint pain.
Arthritis and rheumatism 2004;50(11):3698-701.
2004: Dogulu Cigdem F; Tsilou Ekaterini; Rubin Benjamin; Fitzgibbon Edmond J; Kaiser-Kupper Muriel I; Rennert Owen M; Gahl William A
Idiopathic intracranial hypertension in cystinosis.
The Journal of pediatrics 2004;145(5):673-8.
2004: Kleta Robert; Gahl William A
Pharmacological treatment of nephropathic cystinosis with cysteamine.
Expert opinion on pharmacotherapy 2004;5(11):2255-62.
2004: Bendavid Claude; Kleta Robert; Long Robert; Ouspenskaia Maia; Muenke Maximilian; Haddad Bassem R; Gahl William A
FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
Human genetics 2004;115(6):510-4.
2004: Gwynn Babette; Martina Jose A; Bonifacino Juan S; Sviderskaya Elena V; Lamoreux M Lynn; Bennett Dorothy C; Moriyama Kengo; Huizing Marjan; Helip-Wooley Amanda; Gahl William A; Webb Lisa S; Lambert Amy J; Peters Luanne L
Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex.
Blood 2004;104(10):3181-9.
2004: Gunay-Aygun Meral; Huizing Marjan; Gahl William A
Molecular defects that affect platelet dense granules.
Seminars in thrombosis and hemostasis 2004;30(5):537-47.
2004: Kleta Robert; Bernardini Isa; Ueda Masako; Varade William S; Phornphutkul Chanika; Krasnewich Donna; Gahl William A
Long-term follow-up of well-treated nephropathic cystinosis patients.
The Journal of pediatrics 2004;145(4):555-60.
2004: Huizing Marjan; Hess Richard; Dorward Heidi; Claassen David A; Helip-Wooley Amanda; Kleta Robert; Kaiser-Kupfer Muriel I; White James G; Gahl William A
Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5.
Traffic (Copenhagen, Denmark) 2004;5(9):711-22.
2004: Kleta Robert; Romeo Elisa; Ristic Zorica; Ohura Toshihiro; Stuart Caroline; Arcos-Burgos Mauricio; Dave Mital H; Wagner Carsten A; Camargo Simone R M; Inoue Sumiko; Matsuura Norio; Helip-Wooley Amanda; Bockenhauer Detlef; Warth Richard; Bernardini Isa; Visser Gepke; Eggermann Thomas; Lee Philip; Chairoungdua Arthit; Jutabha Promsuk; Babu Ellappan; Nilwarangkoon Sirinun; Anzai Naohiko; Kanai Yoshikatsu; Verrey Francois; Gahl William A; Koizumi Akio
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature genetics 2004;36(9):999-1002.
2004: Tsilou Ekaterini T; Rubin Benjamin I; Reed George F; McCain Lessie; Huizing Marjan; White James; Kaiser-Kupfer Muriel I; Gahl William
Milder ocular findings in Hermansky-Pudlak syndrome type 3 compared with Hermansky-Pudlak syndrome type 1.
Ophthalmology 2004;111(8):1599-603.
2004: Garrison N A; Yi Z; Cohen-Barak O; Huizing M; Hartnell L M; Gahl W A; Brilliant M H
P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.
Journal of medical genetics 2004;41(6):e86.
2004: Kleta Robert; Morse Richard P; Orvisky Eduard; Krasnewich Donna; Alroy Joseph; Ucci Angelo A; Bernardini Isa; Wenger David A; Gahl William A
Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.
Molecular genetics and metabolism 2004;82(2):137-43.
2004: Kleta Robert; Stuart Caroline; Gill Fred A; Gahl William A
Renal glucosuria due to SGLT2 mutations.
Molecular genetics and metabolism 2004;82(1):56-8.
2004: Kleta Robert; Blair Scott C; Bernardini Isa; Kaiser-Kupfer Muriel I; Gahl William A
Keratopathy of multiple myeloma masquerading as corneal crystals of ocular cystinosis.
Mayo Clinic proceedings. Mayo Clinic 2004;79(3):410-2.
2004: Huizing Marjan; Rakocevic Goran; Sparks Susan E; Mamali Ioanna; Shatunov Alexey; Goldfarb Lev; Krasnewich Donna; Gahl William A; Dalakas Marinos C
Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.
Molecular genetics and metabolism 2004;81(3):196-202.
2004: Grier Robert E; Gahl William A; Cowan Tina; Bernardini Isa; McDowell Geraldine A; Rinaldo Piero
Revised sections F7.5 (quantitative amino acid analysis) and F7.6 (qualitative amino acid analysis): American College of Medical Genetics Standards and Guidelines for Clinical Genetics Laboratories, 2003.
Genetics in medicine : official journal of the American College of Medical Genetics 2004;6(1):66-8.
2003: Gahl William A
Early oral cysteamine therapy for nephropathic cystinosis.
European journal of pediatrics 2003;162 Suppl 1():S38-41.
2003: Hyman Tehila; Huizing Marjan; Blumberg Peter M; Falik-Zaccai Tzipora C; Anikster Yair; Gahl William A
Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome.
British journal of haematology 2003;122(1):142-9.
2003: Kleta Robert; Aughton David J; Rivkin Michael J; Huizing Marjan; Strovel Erin; Anikster Yair; Orvisky Eduard; Natowicz Marvin; Krasnewich Donna; Gahl William A
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: Martin Rick A; Slaugh Rachel; Natowicz Marvin; Pearlman Kayla; Orvisky Eduard; Krasnewich Donna; Kleta Robert; Huizing Marjan; Gahl William A
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: Anderson Paul D; Huizing Marjan; Claassen David A; White James; Gahl William A
Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics.
Human genetics 2003;113(1):10-7.
2003: Ciciotte Steven L; Gwynn Babette; Moriyama Kengo; Huizing Marjan; Gahl William A; Bonifacino Juan S; Peters Luanne L
Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1).
Blood 2003;101(11):4402-7.
2003: Tsilou E T; Thompson D; Lindblad A S; Reed G F; Rubin B; Gahl W; Thoene J; Del Monte M; Schneider J A; Granet D B; Kaiser-Kupfer M I
A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis.
The British journal of ophthalmology 2003;87(1):28-31.
2002: Phornphutkul Chanika; Introne Wendy J; Perry Monique B; Bernardini Isa; Murphey Mark D; Fitzpatrick Diana L; Anderson Paul D; Huizing Marjan; Anikster Yair; Gerber Lynn H; Gahl William A
Natural history of alkaptonuria.
The New England journal of medicine 2002;347(26):2111-21.
2002: Huizing Marjan; Boissy Raymond E; Gahl William A
Hermansky-Pudlak syndrome: vesicle formation from yeast to man.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2002;15(6):405-19.
2002: Hermos Christina R; Huizing Marjan; Kaiser-Kupfer Muriel I; Gahl William A
Hermansky-Pudlak syndrome type 1: gene organization, novel mutations, and clinical-molecular review of non-Puerto Rican cases.
Human mutation 2002;20(6):482.
2002: Avila Nilo A; Brantly Mark; Premkumar Ahalya; Huizing Marjan; Dwyer Andrew; Gahl William A
Hermansky-Pudlak syndrome: radiography and CT of the chest compared with pulmonary function tests and genetic studies.
AJR. American journal of roentgenology 2002;179(4):887-92.
2002: Introne Wendy J; Phornphutkul Chanika; Bernardini Isa; McLaughlin Kevin; Fitzpatrick Diana; Gahl William A
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.
Molecular genetics and metabolism 2002;77(1-2):136-42.
2002: Kleta Robert; Gahl William A
Cystinosis: antibodies and healthy bodies.
Journal of the American Society of Nephrology : JASN 2002;13(8):2189-91.
2002: Huizing M; Gahl W A
Disorders of vesicles of lysosomal lineage: the Hermansky-Pudlak syndromes.
Current molecular medicine 2002;2(5):451-67.
2002: Anikster Yair; Huizing Marjan; Anderson Paul D; Fitzpatrick Diana L; Klar Aharon; Gross-Kieselstein Eva; Berkun Yackov; Shazberg Gila; Gahl William A; Hurvitz Haggit
Evidence that Griscelli syndrome with neurological involvement is caused by mutations in RAB27A, not MYO5A.
American journal of human genetics 2002;71(2):407-14.
2002: Gahl William A; Brantly Mark; Troendle James; Avila Nilo A; Padua Antonio; Montalvo Carlos; Cardona Hilda; Calis Karim Anton; Gochuico Bernadette
Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome.
Molecular genetics and metabolism 2002;76(3):234-42.
2002: Kleta Robert; Skovby Flemming; Christensen Ernst; Rosenberg Thomas; Gahl William A; Anikster Yair
3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.
Molecular genetics and metabolism 2002;76(3):201-6.
2002: Gahl William A; Thoene Jess G; Schneider Jerry A
Cystinosis.
The New England journal of medicine 2002;347(2):111-21.
2002: Tsilou Ekaterini; Csaky Karl; Rubin Benjamin I; Gahl William; Kaiser-Kupfer Muriel
Retinal visualization in an eye with corneal crystals using indocyanine green videoangiography.
American journal of ophthalmology 2002;134(1):123-5.
2002: Tsilou Ekaterini T; Rubin Benjamin I; Reed George F; Iwata Fumino; Gahl William; Kaiser-Kupfer Muriel I
Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis.
Cornea 2002;21(2):173-6.
2002: Huizing Marjan; Scher Charles D; Strovel Erin; Fitzpatrick Diana L; Hartnell Lisa M; Anikster Yair; Gahl William A
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.
Pediatric research 2002;51(2):150-8.
2001: Anikster Y; Kleta R; Shaag A; Gahl W A; Elpeleg O
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
American journal of human genetics 2001;69(6):1218-24.
2001: Kleta R; Anikster Y; Lucero C; Shotelersuk V; Huizing M; Bernardini I; Park M; Thoene J; Schneider J; Gahl W A
CTNS mutations in African American patients with cystinosis.
Molecular genetics and metabolism 2001;74(3):332-7.
2001: Falik-Zaccai T C; Anikster Y; Rivera C E; Horne M K; Schliamser L; Phornphutkul C; Attias D; Hyman T; White J G; Gahl W A
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics.
Molecular genetics and metabolism 2001;74(3):303-13.
2001: Huizing M; Anikster Y; Fitzpatrick D L; Jeong A B; D'Souza M; Rausche M; Toro J R; Kaiser-Kupfer M I; White J G; Gahl W A
Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
American journal of human genetics 2001;69(5):1022-32.
2001: Phornphutkul C; Anikster Y; Huizing M; Braun P; Brodie C; Chou J Y; Gahl W A
The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.
American journal of human genetics 2001;69(4):712-21.
2001: Huizing M; Anikster Y; White J G; Gahl W A
Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.
Molecular genetics and metabolism 2001;74(1-2):217-25.
2001: Sarangarajan R; Budev A; Zhao Y; Gahl W A; Boissy R E
Abnormal translocation of tyrosinase and tyrosinase-related protein 1 in cutaneous melanocytes of Hermansky-Pudlak Syndrome and in melanoma cells transfected with anti-sense HPS1 cDNA.
The Journal of investigative dermatology 2001;117(3):641-6.
2001: Anikster Y; Huizing M; White J; Shevchenko Y O; Fitzpatrick D L; Touchman J W; Compton J G; Bale S J; Swank R T; Gahl W A; Toro J R
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
Nature genetics 2001;28(4):376-80.
2001: Huizing M; Anikster Y; Gahl W A
Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.
Thrombosis and haemostasis 2001;86(1):233-45.
2001: Huizing M; Sarangarajan R; Strovel E; Zhao Y; Gahl W A; Boissy R E
AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes.
Molecular biology of the cell 2001;12(7):2075-85.
2001: Leroy J G; Seppala R; Huizing M; Dacremont G; De Simpel H; Van Coster R N; Orvisky E; Krasnewich D M; Gahl W A
Dominant inheritance of sialuria, an inborn error of feedback inhibition.
American journal of human genetics 2001;68(6):1419-27.
2001: Huizing M; Didier A; Walenta J; Anikster Y; Gahl W A; Krämer H
Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.
Gene 2001;264(2):241-7.
2001: Anikster Y; Lacbawan F; Brantly M; Gochuico B L; Avila N A; Travis W; Gahl W A
Pulmonary dysfunction in adults with nephropathic cystinosis.
Chest 2001;119(2):394-401.
2000: Huizing M; Anikster Y; Gahl W A
Hermansky-Pudlak syndrome and related disorders of organelle formation.
Traffic (Copenhagen, Denmark) 2000;1(11):823-35.
2000: Gahl W A; Kuehl E M; Iwata F; Lindblad A; Kaiser-Kupfer M I
Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops.
Molecular genetics and metabolism 2000;71(1-2):100-20.
2000: Caplan S; Dell'Angelica E C; Gahl W A; Bonifacino J S
Trafficking of major histocompatibility complex class II molecules in human B-lymphoblasts deficient in the AP-3 adaptor complex.
Immunology letters 2000;72(2):113-7.
2000: Iwata F; Reed G F; Caruso R C; Kuehl E M; Gahl W A; Kaiser-Kupfer M I
Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism.
Ophthalmology 2000;107(4):783-9.
2000: Shotelersuk V; Dell'Angelica E C; Hartnell L; Bonifacino J S; Gahl W A
A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.
The American journal of medicine 2000;108(5):423-7.
2000: Huizing M; Anikster Y; Gahl W A
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
Human genetics 2000;106(3):370-3.
2000: Touchman J W; Anikster Y; Dietrich N L; Maduro V V; McDowell G; Shotelersuk V; Bouffard G G; Beckstrom-Sternberg S M; Gahl W A; Green E D
The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
Genome research 2000;10(2):165-73.
2000: Brantly M; Avila N A; Shotelersuk V; Lucero C; Huizing M; Gahl W A
Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1.
Chest 2000;117(1):129-36.
2000: Dell'Angelica E C; Aguilar R C; Wolins N; Hazelwood S; Gahl W A; Bonifacino J S
Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene.
The Journal of biological chemistry 2000;275(2):1300-6.
2000: Anikster Y; Lucero C; Guo J; Huizing M; Shotelersuk V; Bernardini I; McDowell G; Iwata F; Kaiser-Kupfer M I; Jaffe R; Thoene J; Schneider J A; Gahl W A
Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
Pediatric research 2000;47(1):17-23.
1999: Introne W; Boissy R E; Gahl W A
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.
Molecular genetics and metabolism 1999;68(2):283-303.
1999: Thoene J; Lemons R; Anikster Y; Mullet J; Paelicke K; Lucero C; Gahl W; Schneider J; Shu S G; Campbell H T
Mutations of CTNS causing intermediate cystinosis.
Molecular genetics and metabolism 1999;67(4):283-93.
1999: Toro J; Turner M; Gahl W A
Dermatologic manifestations of Hermansky-Pudlak syndrome in patients with and without a 16-base pair duplication in the HPS1 gene.
Archives of dermatology 1999;135(7):774-80.
1999: Seppala R; Lehto V P; Gahl W A
Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
American journal of human genetics 1999;64(6):1563-9.
1999: Anikster Y; Lucero C; Touchman J W; Huizing M; McDowell G; Shotelersuk V; Green E D; Gahl W A
Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).
Molecular genetics and metabolism 1999;66(2):111-6.
1999: Dell'Angelica E C; Shotelersuk V; Aguilar R C; Gahl W A; Bonifacino J S
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.
Molecular cell 1999;3(1):11-21.
1999: Anikster Y; Shotelersuk V; Gahl W A
CTNS mutations in patients with cystinosis.
Human mutation 1999;14(6):454-8.
1998: Shotelersuk V; Larson D; Anikster Y; McDowell G; Lemons R; Bernardini I; Guo J; Thoene J; Gahl W A
CTNS mutations in an American-based population of cystinosis patients.
American journal of human genetics 1998;63(5):1352-62.
1998: Shotelersuk V; Gahl W A
Hermansky-Pudlak syndrome: models for intracellular vesicle formation.
Molecular genetics and metabolism 1998;65(2):85-96.
1998: Boissy R E; Zhao Y; Gahl W A
Altered protein localization in melanocytes from Hermansky-Pudlak syndrome: support for the role of the HPS gene product in intracellular trafficking.
Laboratory investigation; a journal of technical methods and pathology 1998;78(9):1037-48.
1998: Iwata F; Kuehl E M; Reed G F; McCain L M; Gahl W A; Kaiser-Kupfer M I
A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis.
Molecular genetics and metabolism 1998;64(4):237-42.
1998: Shotelersuk V; Hazelwood S; Larson D; Iwata F; Kaiser-Kupfer M I; Kuehl E; Bernardini I; Gahl W A
Three new mutations in a gene causing Hermansky-Pudlak syndrome: clinical correlations.
Molecular genetics and metabolism 1998;64(2):99-107.
1998: McDowell G A; Town M M; van't Hoff W; Gahl W A
Clinical and molecular aspects of nephropathic cystinosis.
Journal of molecular medicine (Berlin, Germany) 1998;76(5):295-302.
1998: Gahl W A; Brantly M; Kaiser-Kupfer M I; Iwata F; Hazelwood S; Shotelersuk V; Duffy L F; Kuehl E M; Troendle J; Bernardini I
Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome).
The New England journal of medicine 1998;338(18):1258-64.
1998: Hazelwood S; Bernardini I; Shotelersuk V; Tangerman A; Guo J; Mudd H; Gahl W A
Normal brain myelination in a patient homozygous for a mutation that encodes a severely truncated methionine adenosyltransferase I/III.
American journal of medical genetics 1998;75(4):395-400.
1997: Hazelwood S; Shotelersuk V; Wildenberg S C; Chen D; Iwata F; Kaiser-Kupfer M I; White J G; King R A; Gahl W A
Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome.
American journal of human genetics 1997;61(5):1088-94.
1997: Gahl W A
Nephropathic cystinosis.
Pediatrics in review / American Academy of Pediatrics 1997;18(9):302-4.
1997: McDowell G; Gahl W A
Inherited disorders of glycoprotein synthesis: cell biological insights.
Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.) 1997;215(2):145-57.
1997: Chen D; Guo J; Miki T; Tachibana M; Gahl W A
Molecular cloning and characterization of rab27a and rab27b, novel human rab proteins shared by melanocytes and platelets.
Biochemical and molecular medicine 1997;60(1):27-37.
1996: Chen D; Guo J; Miki T; Tachibana M; Gahl W A
Molecular cloning of two novel rab genes from human melanocytes.
Gene 1996;174(1):129-34.
1996: McDowell G; Isogai T; Tanigami A; Hazelwood S; Ledbetter D; Polymeropoulos M H; Lichter-Konecki U; Konecki D; Town M M; Van't Hoff W V; Weissenbach J; Gahl W A
Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13.
Biochemical and molecular medicine 1996;58(2):135-41.
1996: Kaler S G; Das S; Levinson B; Goldstein D S; Holmes C S; Patronas N J; Packman S; Gahl W A
Successful early copper therapy in Menkes disease associated with a mutant transcript containing a small In-frame deletion.
Biochemical and molecular medicine 1996;57(1):37-46.
1996: Potterf S B; Muller J; Bernardini I; Tietze F; Kobayashi T; Hearing V J; Gahl W A
Characterization of a melanosomal transport system in murine melanocytes mediating entry of the melanogenic substrate tyrosine.
The Journal of biological chemistry 1996;271(8):4002-8.
1995: Kaler S G; Buist N R; Holmes C S; Goldstein D S; Miller R C; Gahl W A
Early copper therapy in classic Menkes disease patients with a novel splicing mutation.
Annals of neurology 1995;38(6):921-8.
1995: Gahl W A; Potterf B; Durham-Pierre D; Brilliant M H; Hearing V J
Melanosomal tyrosine transport in normal and pink-eyed dilution murine melanocytes.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 1995;8(5):229-33.
1995: Gahl W A; Ingelfinger J; Mohan P; Bernardini I; Hyman P E; Tangerman A
Intravenous cysteamine therapy for nephropathic cystinosis.
Pediatric research 1995;38(4):579-84.
1995: Theodoropoulos D S; Shawker T H; Heinrichs C; Gahl W A
Medullary nephrocalcinosis in nephropathic cystinosis.
Pediatric nephrology (Berlin, Germany) 1995;9(4):412-8.
1995: Krasnewich D M; Holt G D; Brantly M; Skovby F; Redwine J; Gahl W A
Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.
Glycobiology 1995;5(5):503-10.
1995: Andersson H C; Kohn A D; Gahl W A; Kohn L D
Photoaffinity labeling of lysosomal membrane proteins with [125I]diiodotyrosine, a system h ligand.
Biochemical and molecular medicine 1995;55(1):71-3.
1995: Hahn S H; Tanner M S; Danks D M; Gahl W A
Normal metallothionein synthesis in fibroblasts obtained from children with Indian childhood cirrhosis or copper-associated childhood cirrhosis.
Biochemical and molecular medicine 1995;54(2):142-5.
1995: Hahn S H; Krasnewich D; Brantly M; Kvittingen E A; Gahl W A
Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.
Human mutation 1995;6(1):66-73.
1994: Kaiser-Kupfer M I; Chan C C; Markello T C; Crawford M A; Caruso R C; Csaky K G; Guo J; Gahl W A
Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.
American journal of ophthalmology 1994;118(5):569-82.
1994: Kaler S G; Gallo L K; Proud V K; Percy A K; Mark Y; Segal N A; Goldstein D S; Holmes C S; Gahl W A
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.
Nature genetics 1994;8(2):195-202.
1994: Hahn S H; Brantly M L; Oliver C; Adamson M; Kaler S G; Gahl W A
Metallothionein synthesis and degradation in Indian childhood cirrhosis fibroblasts.
Pediatric research 1994;35(2):197-204.
1994: Charnas L R; Luciano C A; Dalakas M; Gilliatt R W; Bernardini I; Ishak K; Cwik V A; Fraker D; Brushart T A; Gahl W A
Distal vacuolar myopathy in nephropathic cystinosis.
Annals of neurology 1994;35(2):181-8.
1993: Hahn S H; Gahl W A
Copper effects on metal regulatory factors of cultured human fibroblasts.
Biochemical medicine and metabolic biology 1993;50(3):346-57.
1993: Theodoropoulos D S; Krasnewich D; Kaiser-Kupfer M I; Gahl W A
Classic nephropathic cystinosis as an adult disease.
JAMA : the journal of the American Medical Association 1993;270(18):2200-4.
1993: Oshiro S; Nakajima H; Markello T; Krasnewich D; Bernardini I; Gahl W A
Redox, transferrin-independent, and receptor-mediated endocytosis iron uptake systems in cultured human fibroblasts.
The Journal of biological chemistry 1993;268(29):21586-91.
1993: Chik C L; Friedman A; Merriam G R; Gahl W A
Pituitary-testicular function in nephropathic cystinosis.
Annals of internal medicine 1993;119(7 Pt 1):568-75.
1993: Gahl W A; Bernardini I M; Dalakas M C; Markello T C; Krasnewich D M; Charnas L R
Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.
Pediatric research 1993;34(2):115-9.
1993: Kaler S G; Gahl W A
Application of a copper blotting method to the study of Menkes disease.
Biological trace element research 1993;38(1):73-81.
1993: Gahl W A; Bernardini I; Tietze F; Kohn L D
Effects of cycloheximide and tunicamycin on lysosomal cystine transport in rat FRTL-5 cells.
Biochemical medicine and metabolic biology 1993;49(2):243-54.
1993: Markello T C; Bernardini I M; Gahl W A
Improved renal function in children with cystinosis treated with cysteamine.
The New England journal of medicine 1993;328(16):1157-62.
1993: Krasnewich D M; Tietze F; Krause W; Pretzlaff R; Wenger D A; Diwadkar V; Gahl W A
Clinical and biochemical studies in an American child with sialuria.
Biochemical medicine and metabolic biology 1993;49(1):90-6.
1993: Kaler S G; Goldstein D S; Holmes C; Salerno J A; Gahl W A
Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease.
Annals of neurology 1993;33(2):171-5.
1993: Kaler S G; Gahl W A; Berry S A; Holmes C S; Goldstein D S
Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease.
Journal of inherited metabolic disease 1993;16(5):907-8.
1992: Gahl W A; Charnas L; Markello T C; Bernardini I; Ishak K G; Dalakas M C
Parenchymal organ cystine depletion with long-term cysteamine therapy.
Biochemical medicine and metabolic biology 1992;48(3):275-85.
1992: Andersson H C; Markello T; Schneider J A; Gahl W A
Effect of growth hormone treatment on serum creatinine concentration in patients with cystinosis and chronic renal disease.
The Journal of pediatrics 1992;120(5):716-20.
1992: Adamson M; Reiner B; Olson J L; Goodman Z; Plotnick L; Bernardini I; Gahl W A
Indian childhood cirrhosis in an American child.
Gastroenterology 1992;102(5):1771-7.
1991: Kaler S G; Maraia R J; Gahl W A
Human manganese superoxide dismutase is readily detectable by a copper blotting technique.
Biochemical medicine and metabolic biology 1991;46(3):406-15.
1991: Markello T C; Guo J; Gahl W A
High-performance liquid chromatography of lipids for the identification of human metabolic disease.
Analytical biochemistry 1991;198(2):368-74.
1991: Yang W M; Gahl W; Hamer D
Role of heat shock transcription factor in yeast metallothionein gene expression.
Molecular and cellular biology 1991;11(7):3676-81.
1991: Bernardini I; Evans M I; Nicolaides K H; Economides D L; Gahl W A
The fetal concentrating index as a gestational age-independent measure of placental dysfunction in intrauterine growth retardation.
American journal of obstetrics and gynecology 1991;164(6 Pt 1):1481-7; discussion 1487-90.
1991: Charnas L R; Bernardini I; Rader D; Hoeg J M; Gahl W A
Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.
The New England journal of medicine 1991;324(19):1318-25.
1991: Seppala R; Tietze F; Krasnewich D; Weiss P; Ashwell G; Barsh G; Thomas G H; Packman S; Gahl W A
Sialic acid metabolism in sialuria fibroblasts.
The Journal of biological chemistry 1991;266(12):7456-61.
1991: Charnas L R; Gahl W A
The oculocerebrorenal syndrome of Lowe.
Advances in pediatrics 1991;38():75-107.
1990: Blom H J; Andersson H C; Krasnewich D M; Gahl W A
Pulsed amperometric detection of carbohydrates in lysosomal storage disease fibroblasts: a new screening technique for carbohydrate storage diseases.
Journal of chromatography 1990;533():11-21.
1990: Sonies B C; Ekman E F; Andersson H C; Adamson M D; Kaler S G; Markello T C; Gahl W A
Swallowing dysfunction in nephropathic cystinosis.
The New England journal of medicine 1990;323(9):565-70.
1990: Seppala R; Renlund M; Bernardini I; Tietze F; Gahl W A
Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease.
Laboratory investigation; a journal of technical methods and pathology 1990;63(2):197-203.
1990: Andersson H C; Kohn L D; Bernardini I; Blom H J; Tietze F; Gahl W A
Characterization of lysosomal monoiodotyrosine transport in rat thyroid cells. Evidence for transport by system h.
The Journal of biological chemistry 1990;265(19):10950-4.
1990: Blom H J; Andersson H C; Seppala R; Tietze F; Gahl W A
Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts.
The Biochemical journal 1990;268(3):621-5.
1990: Kaiser-Kupfer M I; Gazzo M A; Datiles M B; Caruso R C; Kuehl E M; Gahl W A
A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis.
Archives of ophthalmology 1990;108(5):689-93.
1990: Gahl W A; Schneider J A; Schulman J D; Thoene J G; Reed G F
Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine.
Pediatric nephrology (Berlin, Germany) 1990;4(2):129-35.
1989: Economides D L; Nicolaides K H; Gahl W A; Bernardini I; Evans M I
Plasma amino acids in appropriate- and small-for-gestational-age fetuses.
American journal of obstetrics and gynecology 1989;161(5):1219-27.
1989: Papadopoulos N M; Costello R; Charnas L; Adamson M D; Gahl W A
Electrophoretic examination of proteinuria in Lowe's syndrome and other causes of renal tubular Fanconi syndrome.
Clinical chemistry 1989;35(11):2231-3.
1989: Weiss P; Tietze F; Gahl W A; Seppala R; Ashwell G
Identification of the metabolic defect in sialuria.
The Journal of biological chemistry 1989;264(30):17635-6.
1989: Economides D L; Nicolaides K H; Gahl W A; Bernardini I; Bottoms S; Evans M
Cordocentesis in the diagnosis of intrauterine starvation.
American journal of obstetrics and gynecology 1989;161(4):1004-8.
1989: Tietze F; Seppala R; Renlund M; Hopwood J J; Harper G S; Thomas G H; Gahl W A
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease.
The Journal of biological chemistry 1989;264(26):15316-22.
1989: Adamson M D; Andersson H C; Gahl W A
Cystinosis.
Seminars in nephrology 1989;9(2):147-61.
1989: Tietze F; Kohn L D; Kohn A D; Bernardini I; Andersson H C; Adamson M D; Harper G S; Gahl W A
Carrier-mediated transport of monoiodotyrosine out of thyroid cell lysosomes.
The Journal of biological chemistry 1989;264(9):4762-5.
1988: Gahl W A; Dalakas M C; Charnas L; Chen K T; Pezeshkpour G H; Kuwabara T; Davis S L; Chesney R W; Fink J; Hutchison H T
Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis.
The New England journal of medicine 1988;319(22):1461-4.
1988: Harper G S; Kohn L D; Bernardini I; Bernar J; Tietze F; Andersson H C; Gahl W A
Thyrotropin stimulation of lysosomal tyrosine transport in rat FRTL-5 thyroid cells.
The Journal of biological chemistry 1988;263(19):9320-5.
1988: Kaiser-Kupfer M I; Datiles M B; Gahl W A
Clear graft two years after keratoplasty in nephropathic cystinosis.
American journal of ophthalmology 1988;105(3):318-9.
1988: Gahl W A; Bernardini I; Finkelstein J D; Tangerman A; Martin J J; Blom H J; Mullen K D; Mudd S H
Transsulfuration in an adult with hepatic methionine adenosyltransferase deficiency.
The Journal of clinical investigation 1988;81(2):390-7.
1988: Gahl W A; Bernardini I; Dalakas M; Rizzo W B; Harper G S; Hoeg J M; Hurko O; Bernar J
Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome.
The Journal of clinical investigation 1988;81(2):549-60.
1988: Charnas L; Bernar J; Pezeshkpour G H; Dalakas M; Harper G S; Gahl W A
MRI findings and peripheral neuropathy in Lowe's syndrome.
Neuropediatrics 1988;19(1):7-9.
1988: Jain S; Kuwabara T; Gahl W A; Kaiser-Kupfer M I
Range of toxicity of topical cysteamine in rabbit eyes.
Journal of ocular pharmacology 1988;4(2):127-31.
1988: Gahl W A; Bernardini I; Chen S; Kurtz D; Horvath K
The effect of oral betaine on vertebral body bone density in pyridoxine-non-responsive homocystinuria.
Journal of inherited metabolic disease 1988;11(3):291-8.
1987: Gahl W A; Kaiser-Kupfer M I
Complications of nephropathic cystinosis after renal failure.
Pediatric nephrology (Berlin, Germany) 1987;1(3):260-8.
1987: Harper G S; Bernardini I; Hurko O; Zuurveld J; Gahl W A
Cystine storage in cultured myotubes from patients with nephropathic cystinosis.
The Biochemical journal 1987;243(3):841-5.
1987: Gahl W A; Reed G F; Thoene J G; Schulman J D; Rizzo W B; Jonas A J; Denman D W; Schlesselman J J; Corden B J; Schneider J A
Cysteamine therapy for children with nephropathic cystinosis.
The New England journal of medicine 1987;316(16):971-7.
1987: Gahl W A; Finkelstein J D; Mullen K D; Bernardini I; Martin J J; Backlund P; Ishak K G; Hoofnagle J H; Mudd S H
Hepatic methionine adenosyltransferase deficiency in a 31-year-old man.
American journal of human genetics 1987;40(1):39-49.
1987: Gahl W A
Disorders of lysosomal membrane transport--cystinosis and Salla disease.
Enzyme 1987;38(1-4):154-60.
1986: Bernar J; Tietze F; Kohn L D; Bernardini I; Harper G S; Grollman E F; Gahl W A
Characteristics of a lysosomal membrane transport system for tyrosine and other neutral amino acids in rat thyroid cells.
The Journal of biological chemistry 1986;261(36):17107-12.
1986: Tietze F; Rome L H; Butler J D; Harper G S; Gahl W A
Impaired clearance of free cystine from lysosome-enriched granular fractions of I-cell-disease fibroblasts.
The Biochemical journal 1986;237(1):9-15.
1986: Renlund M; Tietze F; Gahl W A
Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease.
Science (New York, N.Y.) 1986;232(4751):759-62.
1986: Kaiser-Kupfer M I; Caruso R C; Minkler D S; Gahl W A
Long-term ocular manifestations in nephropathic cystinosis.
Archives of ophthalmology 1986;104(5):706-11.
1985: Gahl W A; Tietze F; Butler J D; Schulman J D
Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange.
The Biochemical journal 1985;228(3):545-50.
1985: Butler J D; Gahl W A; Tietze F
Cystine depletion by WR-1065 in cystinotic cells. Mechanism of action.
Biochemical pharmacology 1985;34(12):2179-85.
1985: Bernardini I; Rizzo W B; Dalakas M; Bernar J; Gahl W A
Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome.
The Journal of clinical investigation 1985;75(4):1124-30.

Sign-in to see more

Sign-in free and Explore the Exciting World of BiomedExperts:

NetworkView

William Gahl

Research Profile (preview)

Disorders

Physiology

Chemicals & Drugs

Anatomy

Living Beings

Concepts & Ideas

Procedures

Network (preview)

Publications

Sign in free and see...

Visualized networks:

GeoTargeted Searches:

Research Profiles:

Geonetwork of William Gahl (preview)

All Publications