Associated Papers
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F et al.
Genes, 2023
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Wen B et al.
Human Molecular Genetics, 2022
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
Increased muscle coenzyme Q10 in riboflavin responsive MADD with ETFDH gene mutations due to secondary mitochondrial proliferation.
Wen B et al.
Molecular Genetics and Metabolism, 2013
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