Hospital Clinic Barcelona-ko ikertzaileekin lankidetzan egindako argitalpenak (9)

2019

  1. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain

    Clinical Genetics, Vol. 95, Núm. 5, pp. 615-626

  2. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports, Vol. 9, Núm. 1

2017

  1. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso

    Medicina Clinica, Vol. 147, Núm. 11, pp. 506.e1-506.e7

  2. Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion, Vol. 30, pp. 51-58

2012

  1. Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: New insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature

    British Journal of Dermatology, Vol. 166, Núm. 4, pp. 830-838

2010

  1. Functional splicing assay supporting that c.70+5G>A mutation in the MPV17 gene is disease causing

    Journal of Inherited Metabolic Disease, Vol. 33, Núm. SUPPL. 3

2009

  1. PDH E 1 β deficiency with novel mutations in two patients with Leigh syndrome

    Journal of Inherited Metabolic Disease, Vol. 32, Núm. SUPPL. 1

  2. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

    Human Mutation, Vol. 30, Núm. 11, pp. 1558-1566