Publicaciones en colaboración con investigadores/as de Necker-Enfants Malades Hospital (3)

2018

  1. Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    Journal of Inherited Metabolic Disease

2017

  1. The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome

    Clinical Genetics, Vol. 91, Núm. 1, pp. 46-53

1987

  1. The syndrome of myoclonic epilepsy with ragged-red fibers. Report of a case and review of the literature

    Neuropediatrics, Vol. 18, Núm. 4, pp. 200-204