Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly-Reference-Cited by-同舟云学术

Phosphoglycerate dehydrogenase (PHGDH) deficiency without epilepsy mimicking primary microcephaly

Published:2017-04-25 Issue:7 Volume:173 Page:1936-1942
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Poli Antoine¹^ORCID,Vial Yoann¹,Haye Damien¹,Passemard Sandrine¹,Schiff Manuel²,Nasser Hala¹²,Delanoe Catherine²,Cuadro Emma³,Kom Rémi³,Elanga Narcisse³,Favre Anne³,Drunat Séverine¹,Verloes Alain¹

Affiliation:

1. Department of Genetics, APHP-Robert DEBRE University Hospital; Paris VII-Denis Diderot Medical School and INSERM UMR1141; Paris France

2. Department of Child Neurology and Metabolic Disorders; APHP-Robert DEBRE University Hospital; Paris France

3. Department of Pediatrics; Cayenne General Hospital; French Guiana France

Funder

Programmes Hospitaliers de Recherche Clinique (PHRC) grants from the French Ministry of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway;Acuna-Hidalgo;American Journal of Human Genetics,2014

2. Two new cases of serine deficiency disorders treated with l-serine. Eur. J. Paediatr. Neurol;Brassier;European Journal of Paediatric Neurology,2016

3. Novel report of phosphoserine phosphatase deficiency in an adult with myeloneuropathy and limb contractures;Byers;JIMD Reports,2015

4. 3-phosphoglycerate dehydrogenase deficiency: A case report of a treatable cause of seizures;Coşkun;Turkish Journal of Pediatrics,2009

5. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency;de Koning;Annals of Neurology,1998

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