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Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency

✍ Scribed by M.T. García-Silva; Y. Campos; A. Ribes; P. Briones; A. Cabello; J.Santos Borbujo; J. Arenas; B. Garavaglia


Book ID
117164273
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
109 KB
Volume
125
Category
Article
ISSN
1097-6833

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Deficiency of cytochromes b and aa3in mu
✍ R. C. A. Sengers; J. M. F. Trijbels; J. A. J. M. Bakkeren; W. Ruitenbeek; J. C. 📂 Article 📅 1984 🏛 Springer 🌐 English ⚖ 986 KB

A girl was presented suffering from generalised weakness and cardiorespiratory insufficiency. She succumbed at the age of 5 months. Lactate levels were elevated in serum, cerebrospinal fluid and urine. Histopathological examination revealed a mitochondrial myopathy. In muscle tissue the cytochrome o