J
Joseph D. Schulman
Researcher at Genetics and IVF Institute
Publications - 166
Citations - 6800
Joseph D. Schulman is an academic researcher from Genetics and IVF Institute. The author has contributed to research in topics: Cystine & Cystinosis. The author has an hindex of 45, co-authored 166 publications receiving 6622 citations. Previous affiliations of Joseph D. Schulman include Northwestern University & George Washington University.
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Journal ArticleDOI
Adrenoleukodystrophy Increased plasma content of saturated very long chain fatty acids
Hugo W. Moser,Hugo W. Moser,Ann B. Moser,Karen K. Frayer,Winston W. Chen,Joseph D. Schulman,Brian P. O'Neill,Yasuo Kishimoto +7 more
TL;DR: With a new method, saturated very long chain fatty acids in the plasma of adrenoleukodystrophy (ALD) hemizygotes, ALD heterozygotes, and controls are measured, showing increased levels of hexacosanoate (C26 fatty acid) which represented 0.081 ± 0.0066% of total fatty acids.
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Cytogenetic results from the U.S. Collaborative Study on CVS.
David H. Ledbetter,Julia Zachary,J. Simpson,M S Golbus,Eugene Pergament,L. Jackson,Maurice J. Mahoney,Robert J. Desnick,Joseph D. Schulman,Karen L. Copeland,Yury Verlinsky,Teresa L. Yang-Feng,Steven A. Schonberg,Arvind Babu,Avirachan T. Tharapel,A. Dorfmann,Herbert A. Lubs,George G. Rhoads,Sarah E. Fowler,F. de la Cruz +19 more
TL;DR: From these data, it is clear that the culture method has a higher degree of diagnostic accuracy than the direct method, which should not be used as the sole diagnostic technique.
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Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
TL;DR: The activity of a cystine transport system in lysosomes prepared from the leukocytes of patients with cystinosis was found to be deficient and this system was resistant to N-ethylmaleimide and demonstrated saturation kinetics.
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Cysteamine Therapy for Children with Nephropathic Cystinosis
William A. Gahl,William A. Gahl,William A. Gahl,George F. Reed,George F. Reed,George F. Reed,Jess G. Thoene,Jess G. Thoene,Jess G. Thoene,Joseph D. Schulman,Joseph D. Schulman,Joseph D. Schulman,William B. Rizzo,William B. Rizzo,William B. Rizzo,Adam J. Jonas,Adam J. Jonas,Adam J. Jonas,Daniel W. Denman,Daniel W. Denman,Daniel W. Denman,James J. Schlesselman,James J. Schlesselman,James J. Schlesselman,Brian J. Corden,Brian J. Corden,Brian J. Corden,Jerry A. Schneider,Jerry A. Schneider,Jerry A. Schneider +29 more
TL;DR: It is concluded that oral cysteamine, by depleting cells of cystine, helps maintain renal glomerular function, improves growth, and constitutes the current treatment of choice for nephropathic cystinosis.
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Influence of acetylsalicylic acid, an inhibitor of prostaglandin synthesis, on the duration of human gestation and labour
TL;DR: Observations suggest that endogenous PGs are important regulators of the duration of human gestation and labor and the possibility is raised that aberrations in PG metabolism could be responsible for certain instances of postmaturity or prolonged labor.