✦ LIBER ✦

Detection of hereditary metabolic disorders involving amino acids and organic acids

✍ Scribed by Vivian E. Shih

Publisher: Elsevier Science
Year: 1991
Tongue: English
Weight: 760 KB
Volume: 24
Category: Article
ISSN: 0009-9120
DOI: 10.1016/0009-9120(91)80004-m

No coin nor oath required. For personal study only.

✦ Synopsis

Inherited disorders in the metabolism of amino acids and organic acids may cause neurological dysfunction and acute metabolic crises. For many of these disorders, early diagnosis and early treatment can greatly improve the outcome. A general description of the clinical manifestations and a discussion of selected techniques and approaches for the laboratory diagnosis are reviewed. ratory diagnosis. Readers are referred to several excellent publications which include detailed descriptions of both the clinical and biochemical findings (2-4) as well as the laboratory techniques (5-7).

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