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Disorders of the mitochondrial respiratory chain: clinical manifestations and diagnostic approach

✍ Scribed by J. M. F. Trijbels; R. C. A. Sengers; W. Ruitenbeek; J. C. Fischer; J. A. J. M. Bakkeren; A. J. M. Janssen

Publisher: Springer
Year: 1988
Tongue: English
Weight: 632 KB
Volume: 148
Category: Article
ISSN: 0340-6997
DOI: 10.1007/bf00445910

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✦ Synopsis

The clinical identification of patients with defects in the mitochondrial respiratory chain is almost impossible. We describe screening tests that should be performed in order to select those patients in whom a skeletal muscle biopsy should be carried out for more specific biochemical assays. The importance of performing in vivo function tests is stressed. The biochemical diagnosis in disorders of the respiratory chain is presented and the application of immunological methods discussed.

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