Molecular Characterization of 3-Phosphoglycerate Dehydrogenase Deficiency—a Neurometabolic Disorder Associated with Reduced L-Serine Biosynthesis-Reference-Cited by-同舟云学术

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

Published:2000-12 Issue:6 Volume:67 Page:1389-1399
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Klomp Leo W.J.,de Koning Tom J.,Malingré 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.,Berger Ruud

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference31 articles.

1. Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase;Achouri;Biochem J,1997

2. Selective expression of the large neutral amino acid transporter at the blood-brain barrier;Boado;Proc Natl Acad Sci USA,1999

3. Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes;Cox;Science,1990

4. Distribution of serine hydroxymethyltransferase and glycine transaminase in several areas of the central nervous system of the rat;Daly;J Neurochem,1974

5. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency;De Koning;Ann Neurol,1998

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