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Acute rhabdomyolysis with carnitine-palmityl-transferase deficiency

✍ Scribed by P. L. Blanc

Book ID
105286787
Publisher
Springer
Year
1982
Tongue
English
Weight
86 KB
Volume
8
Category
Article
ISSN
1432-1238

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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