Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1998320 | Molecular Genetics and Metabolism | 2012 | 5 Pages |
Abstract
⺠This paper describes a third patient with the cblJ inborn error of metabolism. ⺠The patient presented with methylmalonic aciduria and homocystinuria. ⺠Clinical and in vitro studies suggested a less severe form of the disorder. ⺠Studies of cellular cobalamin metabolism were inconclusive. ⺠Exome sequencing demonstrated a homozygous mutation (c.423C>G) in the ABCD4 gene.
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Authors
Jaeseung C. Kim, Ni-Chung Lee, Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Somayyeh Fahiminiya, Jacek Majewski, David Watkins, David S. Rosenblatt,