Clinical experience with miglustat therapy in pediatric patients with Niemann–Pick disease type C: A case series

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community

Incidence of maple syrup urine disease in Portugal

Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction

Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era