Publicacións en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)

2024

  1. Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study

    The Journal of clinical endocrinology and metabolism, Vol. 109, Núm. 3, pp. e932-e944

2023

  1. Characterization and Clinical Association of Autoantibodies Against Perilipin 1 in Patients With Acquired Generalized Lipodystrophy

    Diabetes, Vol. 72, Núm. 1, pp. 71-84

  2. Mortality in Acromegaly Diagnosed in Older Individuals in Spain Is Higher in Women Compared to the General Spanish Population

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 9, pp. 2193-2202

  3. Revisiting the usefulness of the short acute octreotide test to predict treatment outcomes in acromegaly

    Frontiers in Endocrinology, Vol. 14

2015

  1. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

    Endocrine, Vol. 49, Núm. 1, pp. 139-147

2014

  1. Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders

    Orphanet Journal of Rare Diseases, Vol. 9, Núm. 1

  2. The early detection of Salla disease through second-tier tests in newborn screening: How to face incidental findings

    European Journal of Medical Genetics, Vol. 57, Núm. 9, pp. 527-531

2013

  1. Glutaric aciduria type I: Outcome of patients with early- versus late-diagnosis

    European Journal of Paediatric Neurology, Vol. 17, Núm. 4, pp. 383-389

  2. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: Regional experience and high incidence of carnitine deficiency

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

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