Prospective Diagnosis of 2-Methylbutyryl-CoA Dehydrogenase Deficiency in the Hmong Population by Newborn Screening Using Tandem Mass Spectrometry

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: Functional and molecular studies on a defect in isoleucine catabolism

2-Ethylhydracrylic Aciduria in Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Application to Diagnosis and Implications for the R-Pathway of Isoleucine Oxidation

2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report

Characterization of New ACADSB Gene Sequence Mutations and Clinical Implications in Patients with 2-Methylbutyrylglycinuria Identified by Newborn Screening