Associated Papers
Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.
Bisarad P et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3
Genotype-Phenotype Correlation of ETF Dehydrogenase Gene-Related Multiple Acyl-CoA Dehydrogenation Deficiency in Chinese Patients.
Liang H et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3
Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients.
Zaganas I et al.
Molecular Genetics and Metabolism Reports, 2020
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
Clinical and genetical heterogeneity of late-onset multiple acyl-coenzyme A dehydrogenase deficiency.
Grünert SC
Orphanet Journal of Rare Diseases, 2014
25200064 (PubMed )
Supplement: s13023-014-0117-5-S1.doc
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay.
Yamaguchi S et al.
Molecular Genetics and Metabolism, 2012
Pregnancy of a patient with multiple Acyl-CoA dehydrogenation deficiency (MADD).
Trakadis Y et al.
Molecular Genetics and Metabolism, 2012
Clinical and molecular investigations of Japanese cases of glutaric acidemia type 2.
Yotsumoto Y et al.
Molecular Genetics and Metabolism, 2008
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