3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome-Reference-Cited by-同舟云学术

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3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

Published:2000-09 Issue:9 Volume:42 Page:629-633
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:
Short-container-title:Dev Med Child Neurol

Author:

Pineda M,Vilaseca M A,Artuch R,Santos S,García González M M,Sau I,Aracil A,Van Schaftingen E,Jaeken J

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1017/S0012162200001171/fullpdf

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Biochemical and cellular studies of three human 3‐phosphoglycerate dehydrogenase variants responsible for pathological reduced L‐serine levels;BioFactors;2023-08-31

2. Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review;International Journal of Developmental Neuroscience;2022-11-09

3. Case Report of 3-Phosphoglycerate Dehydrogenase Deficiency: A Baby with Severe Microcephaly, Psychomotor Delay, and Seizures;Journal of Pediatric Epilepsy;2021-06-01

4. Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency;Genes;2021-05-08

5. Amino Acid Metabolism;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

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