Carnitine palmitoyltransferase deficiency.

作者信息

Bindoff L A, Sherratt H S, Singh R, Turnbull D M

出版信息

J Neurol Neurosurg Psychiatry. 1988 Sep;51(9):1242-3. doi: 10.1136/jnnp.51.9.1242-b.

DOI:10.1136/jnnp.51.9.1242-b

PMID:3225615

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1033045/

Abstract

摘要

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Carnitine palmitoyltransferase deficiency.

J Neurol Neurosurg Psychiatry. 1988 Sep;51(9):1242-3. doi: 10.1136/jnnp.51.9.1242-b.

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本文引用的文献

Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle.

Eur J Biochem. 1985 May 15;149(1):207-14. doi: 10.1111/j.1432-1033.1985.tb08913.x.

Carnitine palmitoyl transferase deficiency with an atypical presentation and ultrastructural mitochondrial abnormalities.

J Neurol Neurosurg Psychiatry. 1987 Aug;50(8):1060-2. doi: 10.1136/jnnp.50.8.1060.

14CO2 production is no adequate measure of [14C]fatty acid oxidation.

Biochem Med Metab Biol. 1986 Jun;35(3):248-59. doi: 10.1016/0885-4505(86)90080-0.

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