Molecular Genetics And Metabolism Reports

Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome

Pompe disease treatment with twice a week high dose alglucoside alfa in a patient with severe dilated cardiomyopathy

Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events

Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition

A novel variant m.8561C > T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

Clinical and molecular characteristics of colombian patients with mucopolysaccharidosis IVA, and description of a new galns gene mutation

Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers