2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

This publication has 27 references indexed in Scilit:

• Clinical variability in 3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
  Annals of Neurology, 2002
• Fatty Acid Oxidation Disorders
  Annual Review of Physiology, 2002
• Deposition of Alzheimer’s vascular amyloid-β is associated with decreased expression of brain l-3-hydroxyacyl-coenzyme A dehydrogenase (ERAB)
  Brain Research, 2001
• Newly Identified Chinese Hamster Ovary Cell Mutants Defective in Peroxisome Assembly Represent Complementation Group A of Human Peroxisome Biogenesis Disorders and One Novel Group in Mammals
  Experimental Cell Research, 1999
• Human Brain Short Chain l-3-Hydroxyacyl Coenzyme A Dehydrogenase Is a Single-domain Multifunctional Enzyme
  Journal of Biological Chemistry, 1999
• Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the α-subunit of the mitochondrial trifunctional protein
  Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism, 1994
• Improvement and simplification of low‐background silver staining of proteins by using sodium dithionite
  Electrophoresis, 1988
• A Rapid and Sensitive Method for the Quantitation of Microgram Quantities of Protein Utilizing the Principle of Protein-Dye Binding
  Analytical Biochemistry, 1976
• A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
  Analytical Biochemistry, 1976
• Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4
  Nature, 1970