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Is genotyping useful for the screening of medium-chain acyl-CoA dehydrogenase deficiency in France?

✍ Scribed by C. Ged; H. Sebai; H. Verneuil; F. Parrot-Rouleau


Publisher
Springer
Year
1995
Tongue
English
Weight
231 KB
Volume
18
Category
Article
ISSN
0141-8955

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## Communicated by Ronald J.A. Wanders Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent inherited defect of fatty acid oxidation, with a significant morbidity and mortality in undiagnosed patients. Adverse outcomes can effectively be prevented by avoiding metabolic stres