Variable clinical presentation in three patients with 3‐methylglutaconyl‐coenzyme A hydratase deficiency
- 1 August 1998
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 21 (6) , 631-638
- https://doi.org/10.1023/a:1005476315892
Abstract
No abstract availableKeywords
This publication has 8 references indexed in Scilit:
- 3‐Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boyJournal of Inherited Metabolic Disease, 1995
- The detection of 3-methylglutarylcarnitine and a new dicarboxylic conjugate, 3-methylglutaconylcarnitine, in 3-methylglutaconic aciduriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1994
- Fatal cardiomyopathy associated with 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiencyJournal of Inherited Metabolic Disease, 1994
- Multiple syndromes of 3-methylglutaconic aciduriaPediatric Neurology, 1993
- 3‐methylglutaconyl‐coenzyme‐A hydratase deficiency: A new caseJournal of Inherited Metabolic Disease, 1992
- 3-Methylglutaconyl-CoA hydratase, 3-methylcrotonyl-CoA carboxylase and 3-hydroxy-3-methylglutaryl-CoA lyase deficiencies: A coupled enzyme assay useful for their detectionClinica Chimica Acta; International Journal of Clinical Chemistry, 1989
- Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.Journal of Clinical Investigation, 1986
- Inherited 3-methylglutaconic aciduria in two brothers—Another defect of leucine metabolismThe Journal of Pediatrics, 1982