Clinical variability in 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
- 30 April 2002
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 51 (5), 656-659
- https://doi.org/10.1002/ana.10169
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
- The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined PatientsMolecular Genetics and Metabolism, 2001
- Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine MetabolismPediatric Research, 2000
- 2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency: A New Inborn Error of L-Isoleucine MetabolismPediatric Research, 2000
- Short-Chain 3-Hydroxy-2-methylacyl-CoA Dehydrogenase from Rat Liver: Purification and Characterization of a Novel Enzyme of Isoleucine MetabolismArchives of Biochemistry and Biophysics, 1995
- 3-Ketothiolase deficiency: a review and four new patients with neurologic symptomsBrain & Development, 1994
- 3-Oxothiolase Activities and [14C]-2-Methylbutanoic Acid Incorporation in Cultured Fibroblasts from 13 Cases of Suspected 3-Oxothiolase DeficiencyPediatric Research, 1990
- Urinary excretion of 2‐methylacetoacetate, 2‐methyl‐3‐hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2‐methylacetoacetyl‐CoA thiolase deficiencyJournal of Inherited Metabolic Disease, 1990