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Your search keyword '"Duran, Marinus"' showing total 5 results
Start Over Author "Duran, Marinus" Journal american journal of human genetics
5 results on '"Duran, Marinus"'

1. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

Author

Loupatty, Ference J., Clayton, Peter T., Ruiter, Jos P.N., Ofman, Rob, Ijlst, Lodewijk, Brown, Garry K., Thorburn, David R., Harris, Robert A., Duran, Marinus, DeSousa, Carlos, Krywawych, Steve, Heales, Simon J.R., and Wanders, Ronald J.A.

Subjects
Hydrolases -- Research, Enzymes -- Research, Carnitine -- Research, Nervous system -- Degeneration, Nervous system -- Research, Biological sciences
Abstract

A second patient with 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency, who was identified through blood spot acylcarnitine analysis showing persistently increased levels of hydroxyl-[C.sub.4]-camitine, is presented. It is concluded that a carefully interpreted acylcarnitine profile would allow more patients with 3-hydroyisobutyryl-CoA hydrolase deficiency to be diagnosed.

Published
2007

3. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. (Report)

Author

IJlst, Lodewijk, Loupatty, Ference J., Ruiter, Jos P.N., Duran, Marinus, Lehnert, Willy, and Wanders, Ronald J.A.

Subjects
Metabolic diseases -- Genetic aspects, Genetic disorders -- Research, Enzymes -- Genetic aspects, Enzymes -- Physiological aspects, Biological sciences
Published
2002

4. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene

Author

Waterham, Hans R., Wijburg, Frits A., Hennekam, Raoul C.M., Vreken, Peter, Poll-The, Bwee Tien, Dorland, Lambertus, Duran, Marinus, Jira, Petr E., Smeitink, Jan A.M., Wevers, Ron A., and Wanders, Ronald J.A.

Subjects
Birth defects -- Genetic aspects, Sterols -- Genetic aspects, Chromosome mapping -- Usage, Cellular control mechanisms -- Research, Biological sciences
Abstract

Smith-Lemli-Opitz syndrome is the result of 7-dehydrocholesterol reductase gene mutations. The disorder occurs frequently and is characterized by multiple congenital anomalies including mental retardation and facial dysmorphisms. It comes from deficiency of activity of 7-dehydrocholesterol reductase, a catalyst for the final step in the cholesterol-biosynthesis pathway.

Published
1998

5. Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency--a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis

Author

Klomp, Leo W. J., de Koning, Tom J., Malingre, Helga E. M., van Beurden, Ellen A. C. M., Brink, Miny, Opdam, Frans L., Duran, Marinus, Jaeken, Jaak, Pineda, Merce, van Maldergem, Lionel, Poll-The, Bwee Tien, van den Berg, Inge E. T., and Berger, Ruud

Subjects
Genetic research -- Analysis, Human genetics -- Research, Biological sciences
Published
2000

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