- ►ajcn.org BN Ames, I Elson-Schwab, EA Silver - American Journal of Clinical Nutrition, 2002 - Am Soc Nutrition As many as one-third of mutations in a gene result in the corresponding enzyme
having an increased Michaelis constant, or K m , (decreased binding affinity)
for a coenzyme, resulting in a lower rate of reaction. About 50 human ... Cited by 132 - Related articles - BL Direct - All 6 versions
- ►nih.gov [PDF] Y Mashima, A Murakami, RG Weleber, NG … - American journal of human genetics, 1992 - pubmedcentral.nih.gov Bascom Palmer Eye Institute, University of Miami Schoor of Medicine, Miami;
Department of tOphthalmology and *Molecular and Medical Genetics, Oregon Health
Sciences University, Portland; §Department of Medical Genetics, University ... Cited by 50 - Related articles - All 4 versions
MI Kaiser-Kupfer, RC Caruso, D Valle - Archives of Ophthalmology, 1991 - archopht.highwire.org \s=b\Gyrate atrophy of the choroid and retina is an autosomal recessive, chor-
ioretinal dystrophy that begins in child- hood and leads to blindness in the
fourth to seventh decade of life. The primary defect is deficiency of ... Cited by 37 - Related articles - All 5 versions
S Merin, 1991 - books.google.com Library of Congress Cataloging-in-Publication Data Merin, Saul Inherited eye
diseases : dignosis and clinical management / Saul Merin. p. cm. Includes
bibliographical references and index. ISBN 0-8247-7410-8 (alk. paper) 1. ... Cited by 24 - Related articles - All 5 versions
RG Weleber, NG Kennaway, NRM Buist - International Ophthalmology, 1981 - Springer Gyrate atrophy of the choroid and retina is caused by deficient activity of
ornithine ketoacid amino- transferase, a pyridoxal phosphate dependent enzyme.
Besides the typical eye findings, abnormalities have been found on muscle ... Cited by 14 - Related articles - All 3 versions
- ►nih.gov [PDF] J Michaud, GN Thompson, LC Brody, G Steel, C … - American journal of human genetics, 1995 - pubmedcentral.nih.gov 'Service de genetique medicale, Hopital Ste-Justine, Montreal; 2Canadian Genetic
Diseases Network; 'Murdoch Institute, Royal Children's Hospital, Melbourne;
4Departments of Pediatrics and Molecular Biology and Howard Hughes Medical ... Cited by 14 - Related articles - BL Direct - All 7 versions
B Fowler - Journal of inherited metabolic disease, 1985 - Springer Pyridoxine metabolism is summarised and speculation on possible defects leading
to disease is made. Inherited deficiencies of PLP enzymes, which are known to
respond ... The metabolism and transport of pyridoxine has been well ... Cited by 13 - Related articles - All 5 versions
- ►nih.gov [PDF] S Hayasaka, T Saito, H Nakajima, O … - British Medical Journal, 1985 - bjo.bmj.com Page 1. doi:10.1136/bjo.69.4.283 1985;69;283-290 Br. J. Ophthalmol. and K. Tada
S. Hayasaka, T. Saito, H. Nakajima, O. Takahashi, K. Mizuno ... Cited by 12 - Related articles - All 7 versions
T Goto, N Matsuo, T Takahashi - Brain and Development, 2001 - Elsevier Several lines of evidence suggest that the binding affinity of glutamate
decarboxylase (GAD) to the active form of pyridoxine is low in cases of
pyridoxine-dependent seizures (PDS) and that a quantitative imbalance ... Cited by 12 - Related articles - All 11 versions
- ►nih.gov [PDF] NG Kennaway, L Stankova, MK Wirtz, RG … - American journal of human genetics, 1989 - pubmedcentral.nih.gov Page 1. Am. J. Hum. Genet. 44:344-352, 1989 Gyrate Atrophy of the Choroid and
Retina: Characterization of Mutant Ornithine Aminotransferase ... Cited by 10 - Related articles - All 5 versions
