Argitalpenak (90) ELENA MARTÍN HERNÁNDEZ argitalpenak

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. Genetic diagnosis of basal ganglia disease in childhood

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

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

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

  6. 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

  7. Newborn screening for propionic, methylmalonic acidemia and vitamin B12 deficiency. Analysis of 588,793 newborns

    Journal of Pediatric Endocrinology and Metabolism, Vol. 35, Núm. 10, pp. 1223-1231

  8. Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients

    Nutrients, Vol. 14, Núm. 13

  9. 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