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
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2022
36109795 (PubMed )
Supplement: 13023_2022_2512_MOESM1_ESM.docx
Diagnosis, genetic characterization and clinical follow up of mitochondrial fatty acid oxidation disorders in the new era of expanded newborn screening: A single centre experience.
Maguolo A et al.
Molecular Genetics and Metabolism Reports, 2020
Inborn Errors of Metabolism with Myopathy: Defects of Fatty Acid Oxidation and the Carnitine Shuttle System.
El-Gharbawy A et al.
Pediatric Clinics of North America, 2018
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