Publicaciones en colaboración con investigadores/as de Université Denis Diderot (5)

2019

  1. Newborn screening for sickle cell disease in Europe

    International Journal of Neonatal Screening, Vol. 5, Núm. 1

  2. 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, Vol. 42, Núm. 2, pp. 333-352

2018

  1. Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

    British Journal of Haematology, Vol. 183, Núm. 4, pp. 648-660

2017

  1. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

    Annals of Neurology, Vol. 82, Núm. 6, pp. 1004-1015

2012

  1. Population pharmacokinetics and maximum a posteriori probability Bayesian estimator of abacavir: Application of individualized therapy in HIV-infected infants and toddlers

    British Journal of Clinical Pharmacology, Vol. 73, Núm. 4, pp. 641-650