Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8343856 | Molecular Genetics and Metabolism | 2014 | 8 Pages |
Abstract
We propose testing for the R446* mutation in PDHX as a rapid first screening in Roma infants with metabolic acidosis. It will facilitate and accelerate diagnosis in a large proportion of cases, allow early rehabilitation to alleviate the chronic clinical course, and prevent further affected births in high-risk families.
Keywords
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Biochemistry
Authors
Ivan S. Ivanov, Dimitar N. Azmanov, Mariya B. Ivanova, Teodora Chamova, Ilyana H. Pacheva, Margarita V. Panova, Sharon Song, Bharti Morar, Ralitsa V. Yordanova, Fani K. Galabova, Iglika G. Sotkova, Alexandar J. Linev, Stoyan Bitchev,