Universidad Autónoma de Madrid-ko ikertzaileekin lankidetzan egindako argitalpenak (13)

2024

  1. The Role of the Gut Microbiota in Sanfilippo Syndrome’s Physiopathology: An Approach in Two Affected Siblings

    International Journal of Molecular Sciences, Vol. 25, Núm. 16

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. Interorgan amino acid interchange in propionic acidemia: the missing key to understanding its physiopathology

    Amino Acids, Vol. 54, Núm. 5, pp. 777-786

  3. Mitochondrial bioenergetic is impaired in Monocarboxylate transporter 1 deficiency: a new clinical case and review of the literature

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  4. 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

  5. Plasma CoQ10 Status in Patients with Propionic Acidaemia and Possible Benefit of Treatment with Ubiquinol

    Antioxidants, Vol. 11, Núm. 8

2020

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

    Revista espanola de salud publica, Vol. 94

  2. Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

    Human Mutation, Vol. 41, Núm. 7, pp. 1329-1338

2018

  1. Protocolo de diagnóstico, tratamiento y seguimiento de las hiperfenilalaninemias

    Protocolos de diagnóstico y tratamiento de los errores congénitos del metabolismo (Ergon), pp. 67-84

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

2006

  1. Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.

    Journal of inherited metabolic disease, Vol. 29, Núm. 5, pp. 685

2003

  1. Hyperammonaemia as a cause of psychosis in an adolescent

    European Journal of Pediatrics, Vol. 162, Núm. 11, pp. 773-775

2001

  1. Ataxia with isolated vitamin E deficiency: Case report and review of the literature

    Journal of Pediatric Gastroenterology and Nutrition, Vol. 33, Núm. 2, pp. 206-210