Two new cases of serine deficiency disorders treated with l-serine-Reference-Cited by-同舟云学术

Two new cases of serine deficiency disorders treated with l-serine

Published:2016-01 Issue:1 Volume:20 Page:53-60
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Brassier A.,Valayannopoulos V.,Bahi-Buisson N.,Wiame Elsa,Hubert L.,Boddaert N.,Kaminska A.,Habarou F.,Desguerre I.,Van Schaftingen E.,Ottolenghi C.,de Lonlay P.

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference19 articles.

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2. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency–a neurometabolic disorder associated with reduced L-serine biosynthesis;Klomp;Am J Hum Genet,2000

3. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics;Tabatabaie;Hum Mutat,2009

4. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency;Tabatabaie;J Inherit Metab Dis,2011

5. V490M, a common mutation in 3-phosphoglycerate dehydrogenase deficiency, causes enzyme deficiency by decreasing the yield of mature enzyme;Pind;J Biol Chem,2002

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