Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case.

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作者信息

Burlina A B, Bennett M J, Gregersen N, Dalla Barba B, Zacchello F

出版信息

Eur J Pediatr. 1995 Nov;154(11):940-1. doi: 10.1007/BF01957515.

DOI:10.1007/BF01957515

PMID:8582415

Abstract

摘要

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本文引用的文献

Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency.

Arch Dis Child. 1993 Sep;69(3 Spec No):292-4. doi: 10.1136/adc.69.3_spec_no.292.

Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.

J Pediatr. 1994 Mar;124(3):409-15. doi: 10.1016/s0022-3476(94)70363-9.

The enzymes of mitochondrial fatty acid oxidation.

Clin Chim Acta. 1994 May;226(2):211-24. doi: 10.1016/0009-8981(94)90216-x.

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe.

Hum Hered. 1993 Nov-Dec;43(6):342-50. doi: 10.1159/000154157.

Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings.

Eur J Pediatr. 1990 May;149(8):577-81. doi: 10.1007/BF01957697.

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