Publicacions en què col·labora amb María Luz Couce Pico (15)

2021

  1. Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

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. 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

  3. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

    European Journal of Human Genetics, Vol. 27, Núm. 4, pp. 556-562

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. Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG) (J Inherit Metab Dis, 10.1007/s10545–017–0028-4)

    Journal of Inherited Metabolic Disease

  2. Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

    Journal of Human Genetics, Vol. 62, Núm. 3, pp. 355-360

  3. Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

    Journal of Inherited Metabolic Disease, Vol. 40, Núm. 5, pp. 709-713

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

2014

  1. Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

    Orphanet journal of rare diseases, Vol. 9, pp. 187

2012

  1. Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España

    Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría ( AEP ), Vol. 76, Núm. 3, pp. 133-139

  2. Estudio epidemiológico de las enfermedades metabólicas con homocistinuria en España

    Anales de Pediatria, Vol. 76, Núm. 3, pp. 133-139

2011

  1. Hallazgos clínicos y genéticos en pacientes con deficiencia de biotinidasa detectados en el cribado neonatal o selectivo de sordera o de enfermedades metabólicas hereditarias

    Medicina Clinica, Vol. 137, Núm. 11, pp. 500-503

2009

  1. 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

1989

  1. Respiratory chain diseases in infancy: Clinical presentation and diagnosis

    Anales españoles de pediatría: Publicación oficial de la Asociación Española de Pediatría ( AEP ), Vol. 31, Núm. 5, pp. 421-430