Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (17)

2022

  1. First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL

    Human Mutation, Vol. 43, Núm. 10, pp. 1361-1367

  2. Genetic diagnosis of basal ganglia disease in childhood

    Developmental Medicine and Child Neurology, Vol. 64, Núm. 6, pp. 743-752

2020

  1. A novel de novo mutation in the PURA gene associated with a new clinical finding: large brainstem

    Journal of Genetics, Vol. 99, Núm. 1

  2. MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia

    American Journal of Medical Genetics, Part A, Vol. 182, Núm. 6, pp. 1483-1490

2019

  1. A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome

    European Journal of Human Genetics, Vol. 27, Núm. 9, pp. 1369-1378

2018

  1. Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation

    Journal of Human Genetics, Vol. 63, Núm. 4, pp. 525-528

2017

  1. Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

    Orphanet Journal of Rare Diseases, Vol. 12, Núm. 1

  2. Myopathic mtDNA depletion syndrome due to mutation in TK2 Gene

    Pediatric and Developmental Pathology, Vol. 20, Núm. 5, pp. 416-420

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

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

  4. Unidad de Enfermedades Mitocondriales y Enfermedades Metabólicas Hereditarias. Servicio de Pediatría. Hospital Universitario 12 de Octubre

    Revista Espanola de Pediatria, Vol. 73, Núm. 1, pp. 41-45

2016

  1. First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking

    Neurogenetics, Vol. 17, Núm. 1, pp. 51-56

  2. New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy

    Neurogenetics, Vol. 17, Núm. 4, pp. 259-263

2015

  1. Cost-effectiveness analysis of a national newborn screening program for biotinidase deficiency

    Pediatrics, Vol. 136, Núm. 2, pp. e424-e432

2013

  1. A new mutation in the gene encoding mitochondrial seryl-tRNA synthetase as a cause of HUPRA syndrome

    BMC Nephrology, Vol. 14, Núm. 1

  2. Whole-Exome Sequencing Identifies a Variant of the Mitochondrial MT-ND1 Gene Associated with Epileptic Encephalopathy: West Syndrome Evolving to Lennox-Gastaut Syndrome

    Human Mutation, Vol. 34, Núm. 12, pp. 1623-1627

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

2008

  1. Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa

    Anales de Pediatria, Vol. 69, Núm. 4, pp. 358-365