Associated Papers
PET/CT and exome sequencing in late onset multiple acyl-CoA dehydrogenase deficiency: a case series and literature review.
Lin DF et al.
Bmc Medical Genomics, 2025
Exposure to sertraline and ranolazine is common among adult patients with genetically uncharacterized lipid storage myopathy.
Jones FJS et al.
Journal of the Neurological Sciences, 2025
Dried Blood Spot Postmortem Metabolic Autopsy With Genotype Validation for Sudden Unexpected Deaths in Infancy and Childhood in Hong Kong.
Hung LY et al.
Cureus, 2024
Glutaric Aciduria Type 2 Presenting in Adult Life With Hypoglycemia and Encephalopathic Hyperammonemia.
Sousa Martins R et al.
Journal of Medical Cases, 2022
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S et al.
Critical Reviews in Biochemistry and Molecular Biology, 2021
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro P et al.
European Journal of Pediatrics, 2019
Molecular and Clinical Investigations on Portuguese Patients with Multiple acyl-CoA Dehydrogenase Deficiency.
Henriques BJ et al.
Current Molecular Medicine, 2019
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme A Dehydrogenase Deficiency.
Dernoncourt A et al.
Case Reports in Critical Care, 2019
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.
Tong W et al.
Scientific Reports, 2018
Efficacy of bezafibrate on fibroblasts of glutaric acidemia type II patients evaluated using an in vitro probe acylcarnitine assay.
Yamada K et al.
Brain & Development, 2017
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations.
Liu XY et al.
Chinese Medical Journal, 2016
A Historical Cohort Study on the Efficacy of Glucocorticoids and Riboflavin Among Patients with Late-onset Multiple Acyl-CoA Dehydrogenase Deficiency.
Liu XY et al.
Chinese Medical Journal, 2016
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Grünert SC
Orphanet Journal of Rare Diseases, 2014
Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
Trakadis Y et al.
Molecular Genetics and Metabolism, 2012
Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
Wolfe LA et al.
Journal of Inherited Metabolic Disease, 2010
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y et al.
Molecular Genetics and Metabolism, 2008