Disease on EC 1.3.8.5 - short-chain 2-methylacyl-CoA dehydrogenase
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DISEASE 
TITLE OF PUBLICATION
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acyl-coa dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
acyl-coa dehydrogenase deficiency
Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.
acyl-coa dehydrogenase deficiency
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
Intellectual Disability
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
Maple Syrup Urine Disease
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
medium-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
methylcrotonoyl-coa carboxylase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Propionic Acidemia
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
Propionic Acidemia
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
Seizures
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
short-chain 2-methylacyl-coa dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report.
short-chain 2-methylacyl-coa dehydrogenase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.
short-chain 2-methylacyl-coa dehydrogenase deficiency
2-Methylbutyrylglycine induces lipid oxidative damage and decreases the antioxidant defenses in rat brain.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
short-chain 2-methylacyl-coa dehydrogenase deficiency
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Biochemical, Clinical, and Genetic Characteristics of Short/Branched Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients by Newborn Screening.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Characterization of new ACADSB gene sequence mutations and clinical implications in patients with 2-methylbutyrylglycinuria identified by newborn screening.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Inborn errors of isoleucine degradation: a review.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.
short-chain 2-methylacyl-coa dehydrogenase deficiency
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.
short-chain 2-methylacyl-coa dehydrogenase deficiency
UPLC-MS/MS analysis of C5-acylcarnitines in dried blood spots.
short-chain acyl-coa dehydrogenase deficiency
Acylglycine Analysis by Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry (UPLC-MS/MS).
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