Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)-Reference-Cited by-同舟云学术

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Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE)

Published:2007 Issue:10 Volume:28 Page:1045-1045
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Gradinger Abigail B.,Bélair Caroline,Worgan Lisa C.,Li Carter D.,Lavallée Jocelyne,Roquis David,Watkins David,Rosenblatt David S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Cited by 20 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 Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report;International Journal of Neonatal Screening;2024-07-18

2. Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I;Neurotoxicity Research;2024-07-04

3. Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria;Clinical Laboratory;2024

4. Methylmalonyl Coenzyme A (CoA) Epimerase Deficiency, an Ultra-Rare Cause of Isolated Methylmalonic Aciduria With Predominant Neurological Features;Cureus;2023-10-31

5. Persistent moderate methylmalonic aciduria in a patient with methylmalonyl coa epimerase deficiency;The Turkish Journal of Pediatrics;2022

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