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Familial combined deficiency of muscle carnitine and carnitine palmityl transferase (CPT)

✍ Scribed by M. Skard Heier; P. Dietrichson; S. Landass

Book ID
114782393
Publisher
John Wiley and Sons
Year
1986
Tongue
English
Weight
625 KB
Volume
74
Category
Article
ISSN
0001-6314

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πŸ“œ SIMILAR VOLUMES

Myoglobinuria and carnitine palmityl tra
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✍ T. Mongini; C. Doriguzzi; L. Palmucci; L. ChiadΓ²-Piat; M. Maniscalco; D. Schiffe πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 240 KB

A 18-year-old man had recurrent myoglobinuria following exercise and fasting. His parents originated from the same village, which has less than 1000 inhabitants. His 53-year-old father suffered from similar episodes, whereas his mother and elder brother were symptom free. Biochemical investigations