Asymptomatic methylmalonic acidemia in a homozygousMUTmutation (p.P86L)-Reference-Cited by-同舟云学术

Asymptomatic methylmalonic acidemia in a homozygousMUTmutation (p.P86L)

Published:2013-12 Issue:6 Volume:55 Page:e156-e158
ISSN:1328-8067
Container-title:Pediatrics International
language:en
Short-container-title:Pediatr Int

Author:

Underhill Hunter R¹²,Hahn Si Houn²³,Hale Susan L³,Merritt J Lawrence³

Affiliation:

1. Department of Neurological Surgery; University of Washington; Seattle Washington USA

2. Department of Medicine (Division of Medical Genetics); University of Washington; Seattle Washington USA

3. Pediatrics (Biochemical Genetics Program, Division of Genetic Medicine); University of Washington; Seattle Washington USA

Publisher

Wiley

Subject

Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ped.12195/fullpdf

Reference11 articles.

1. Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning;Jansen;Am. J. Hum. Genet.,1990

2. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype;Worgan;Hum. Mutat.,2006

3. Varying neurological phenotypes among muto and mut- patients with methylmalonylCoA mutase deficiency;Shevell;Am. J. Med. Genet.,1993

4. Benign methylmalonic aciduria;Ledley;N. Engl. J. Med.,1984

5. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program;Sniderman;J. Pediatr.,1999

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