Mutations in the Gene Encoding 3-Hydroxyisobutyryl-CoA Hydrolase Results in Progressive Infantile Neurodegeneration
Ference Loupatty
The American Journal of Human Genetics, 2007
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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 diseases
rob ofman
Molecular Genetics and Metabolism, 2004
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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease
Magdalena Ugarte, Jaime Dalmau
Pediatric Research, 2005
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Microcephaly and developmental delay caused by short-chain acyl-CoA dehydrogenase deficiency
Saliha Senel
The Turkish journal of pediatrics, 2017
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3-Hydroxyisobutyryl-CoA Hydrolase Deficiency in a Turkish Child with a Novel HIBCH Gene Mutation and Literature Review
Fatma Çolak
2020
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2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report
Bjørn Tvedt
Journal of Medical Case Reports, 2007
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Enzymes of Fatty Acid β‐Oxidation in Developing Brain
D. Dewey
Journal of Neurochemistry, 1988
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2Methyl3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene
Johannes Zschocke
American Journal of Human Genetics, 2003
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Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: An examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms
Susan Waisbren
Molecular Genetics and Metabolism, 2008
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Early infantile presentation of 3-methylcrotonyl CoA carboxylase deficiency: a case report
anurag chandel
International Journal of Contemporary Pediatrics, 2021
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Neurocognitive assessments and long-term outcome in an adult with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency
philomena mccarthy
Molecular Genetics and Metabolism Reports, 2018
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Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency
Ronald Wanders
European Journal of Pediatrics, 1998
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2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism
Andre Megarbane
Molecular Genetics and Metabolism, 2008
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A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death
Harold Sims
Journal of Clinical Investigation, 1994
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Early Neonatal Diagnosis of Long-Chain 3-Hydroxyacyl Coenzyme A Dehydrogenase and Mitochondrial Trifunctional Protein Deficiencies
Michael Bennett
Molecular Genetics and Metabolism, 2002
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Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis
F. Zacchello
European Journal of Pediatrics, 1994
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Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
Julie Neidich
Molecular genetics and metabolism, 2012
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Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry
Chester Whitley
PEDIATRICS, 2003
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Neonatal onset of medium-chain Acyl-CoA dehydrogenase deficiency in two siblings
Fumio Endo
Brain and Development, 1988
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Evidence that the major metabolites accumulating in medium-chain acyl-CoA dehydrogenase deficiency disturb mitochondrial energy homeostasis in rat brain
Gustavo Ferreira
Brain Research, 2009
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Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy
Anne Vassault, Pascale Lonlay
Journal of Inherited Metabolic Disease, 2010
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