The clinical picture of early-onset cobalamin C defect (methylmalonic aciduria and homocystinuria)
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference10 articles.
1. Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type;Lerner-Ellis;Nat Gen,2006
2. Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC);Rosenblatt;J Inherit Metab Dis,1997
3. Assessment of visual function in children with methylmalonic aciduria and homocystinuria;Ricci;Neuropediatrics,2005
4. MRI and 1H-MRS findings in early-onset cobalamin C/D Defect;Longo;Neuropediatrics,2005
5. Elevation in S-adenosylhomocysteine and DNA hypomethylation: potential epigenetic mechanism for homocysteine-related pathology;James;J Nutr,2002
Cited by 2 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. Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature;Child's Nervous System;2018-02-27
2. A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China;Journal of the Neurological Sciences;2012-07
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