The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency-Reference-Cited by-同舟云学术

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The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency

Published:2004-08 Issue:4 Volume:82 Page:334-338
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Cardoso M.L,Rodrigues M.R,Leão E,Martins E,Diogo L,Rodrigues E,Garcia P,Rolland M.O,Vilarinho L

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference28 articles.

1. Online Mendelian Inheritance in Man. Available from

2. 3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria;Ashmarina;J. Lipid Res.,1999

3. Lethal hypoglycemia in a child with a deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase;Shutgens;J. Pediatr.,1979

4. The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria;Faull;Clin. Chim. Acta,1976

5. Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency;Muroi;Hum. Genet.,2000

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4. Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center;Journal of Pediatric Genetics;2020-07-29

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