Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.

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作者信息

Briones P, Garavaglia B, Ribes A, Yoldi M E, Rodés M, Romero C, García-Bragado F

机构信息

CSIC, Barcelona, Spain.

出版信息

J Inherit Metab Dis. 1995;18(2):237-40. doi: 10.1007/BF00711777.

DOI:10.1007/BF00711777

PMID:7564257

Abstract

摘要

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Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts.

N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006.

Transport of carnitine into cells in hereditary carnitine deficiency.

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Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake.

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Significance of bound glutarate in the diagnosis of glutaric aciduria type I.

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