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Rapid diagnosis of maple syrup urine disease (branched chain ketoaciduria) by micro-enzyme assay in leukocytes and fibroblasts

✍ Scribed by U. Wendel; W. Wöhler; H.W. Goedde; U. Langenbeck; E. Passarge; H.W. Rüdiger

Book ID: 115819744
Publisher: Elsevier Science
Year: 1973
Tongue: English
Weight: 1021 KB
Volume: 45
Category: Article
ISSN: 0009-8981
DOI: 10.1016/0009-8981(73)90046-6

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## Abstract Individuals with maple syrup urine disease (MSUD) have an inherited metabolic disorder resulting in a deficiency in the branched‐chain keto‐acid dehydrogenase complex. As a result, these individuals have elevated concentrations of the branched‐chain amino acids valine, isoluecine, allo‐