Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario 12 de Octubre (61)

2024

  1. Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report

    Frontiers in Nutrition, Vol. 11

2022

  1. Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region

    JIMD Reports, Vol. 63, Núm. 2, pp. 146-161

  2. Effectiveness and safety of the treatment of lysosomal deposit diseases: Analysis of 22 patients

    Medicina Clinica, Vol. 159, Núm. 8, pp. 380-384

  3. 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

  4. Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism

    International Journal of Molecular Sciences, Vol. 23, Núm. 21

  5. Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases

    Journal of Clinical Medicine, Vol. 11, Núm. 10

  6. Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 17

2021

  1. Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants

    Molecular Genetics and Metabolism, Vol. 133, Núm. 2, pp. 201-210

  2. 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

  3. MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase

    Brain, Vol. 144, Núm. 9, pp. 2722-2731

  4. Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C

    Journal of pediatric hematology/oncology, Vol. 43, Núm. 8, pp. e1238-e1240

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. Análisis de casos positivos de cribado neonatal de errores congénitos del metabolismo en la Comunidad de Madrid

    Revista espanola de salud publica, Vol. 94

  3. 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

  4. Perioperative management of children with urea cycle disorders

    Paediatric Anaesthesia, Vol. 30, Núm. 7, pp. 780-791

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

  2. 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

  3. Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy

    Annals of Neurology, Vol. 86, Núm. 2, pp. 293-303

  4. Evolution of tyrosinemia type 1 disease in patients treated with nitisinone in Spain

    Medicine (United States), Vol. 98, Núm. 39

  5. Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatment

    Journal of Clinical Medicine, Vol. 8, Núm. 11