3-Hydroxy-3-methylglutaryl-CoA lyase deficiency: absence of clinical symptoms due to a self-imposed dietary fat and protein restriction.

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作者信息

Bakker H D, Wanders R J, Schutgens R B, Abeling N G, van Gennip A H

机构信息

Academic Medical Center, Division of Emma Kinderziekenhuis/Children's AMC, University of Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1993;16(6):1061-2. doi: 10.1007/BF00711535.

DOI:10.1007/BF00711535

PMID:8127066

Abstract

摘要

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本文引用的文献

3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. Follow-up of first described case.

Acta Paediatr Scand. 1981 Mar;70(2):265-8. doi: 10.1111/j.1651-2227.1981.tb05555.x.

The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria.

Eur J Pediatr. 1990 Feb;149(5):346-50. doi: 10.1007/BF02171564.

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