| Literature DB >> 924441 |
O S Reddi, S V Reddy, K R Reddy.
Abstract
During routine screening of amino-acid disorders, we detected hypervalinemia in two sibs (a girl of 4 and a boy of 3 years of age) of a consanguineous marriage. There was no excess accumulation or excretion of leucine or isoleucine, which presumably indicates the absence of valine transaminase.Entities:
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Year: 1977 PMID： 924441 DOI： 10.1007/bf00273165
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132