Publicacións en colaboración con investigadores/as de University of Texas Southwestern Medical Center (10)

2022

  1. Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach

    Molecular Genetics and Metabolism, Vol. 137, Núm. 1-2, pp. 114-126

2019

  1. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (Nature Genetics, (2019), 51, 3, (414-430), 10.1038/s41588-019-0358-2)

    Nature Genetics

  2. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

    Nature Genetics, Vol. 51, Núm. 3, pp. 414-430

  3. Ticagrelor in patients with diabetes and stable coronary artery disease with a history of previous percutaneous coronary intervention (THEMIS-PCI): a phase 3, placebo-controlled, randomised trial

    The Lancet, Vol. 394, Núm. 10204, pp. 1169-1180

2017

  1. Estimating the prevalence of generalized and partial lipodystrophy: Findings and challenges

    Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy, Vol. 10, pp. 375-383

2016

  1. Endolysosomal two-pore channels regulate autophagy in cardiomyocytes

    Journal of Physiology, Vol. 594, Núm. 11, pp. 3061-3077

  2. The diagnosis and management of lipodystrophy syndromes: A multi-society practice guideline

    Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 12, pp. 4500-4511

2015

  1. Ghrelin

    Molecular Metabolism, Vol. 4, Núm. 6, pp. 437-460

  2. Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes

    Orphanet Journal of Rare Diseases, Vol. 10, Núm. 1

2008

  1. Deficiencia del transportador de glucosa tipo I: Una enfermedad neurometabólica tratable

    Anales de Pediatria