Clinical variability in 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Reference7 articles.
1. Short-Chain 3-Hydroxy-2-methylacyl-CoA Dehydrogenase from Rat Liver: Purification and Characterization of a Novel Enzyme of Isoleucine Metabolism
2. 3-Oxothiolase Activities and [14C]-2-Methylbutanoic Acid Incorporation in Cultured Fibroblasts from 13 Cases of Suspected 3-Oxothiolase Deficiency
3. Urinary excretion of 2-methylacetoacetate, 2-methyl-3-hydroxybutyrate and tiglylglycine after isoleucine loading in the diagnosis of 2-methylacetoacetyl-CoA thiolase deficiency
4. Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism
5. The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients
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