Neuroimage Findings in 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency
- 30 April 2007
- journal article
- case report
- Published by Elsevier BV in Pediatric Neurology
- Vol. 36 (4), 264-267
- https://doi.org/10.1016/j.pediatrneurol.2006.11.014
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial DiseasePediatric Research, 2005
- Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic–ischemic brain diseasesMolecular Genetics and Metabolism, 2004
- 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative diseaseBrain & Development, 2004
- 3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiencyJournal of Inherited Metabolic Disease, 2003
- 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 GeneAmerican Journal of Human Genetics, 2003
- 2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old manJournal of Inherited Metabolic Disease, 2002
- Clinical variability in 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiencyAnnals of Neurology, 2002
- 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
- CT and MR of the brain in the diagnosis of organic acidemias Experiences from 107 patientsBrain & Development, 1994
- 3-Ketothiolase deficiency: a review and four new patients with neurologic symptomsBrain & Development, 1994