Associated Papers
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients.
Ali A 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
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi FA et al.
Jimd Reports, 2016
Clinical features and ETFDH mutation spectrum in a cohort of 90 Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.
Xi J et al.
Journal of Inherited Metabolic Disease, 2014
Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?
Olsen RK et al.
Molecular Genetics and Metabolism, 2013
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
Cornelius N et al.
Human Molecular Genetics, 2012
Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
Trakadis Y et al.
Molecular Genetics and Metabolism, 2012
Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency.
Law LK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.
Olsen RK et al.
Human Mutation, 2003
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