Publicacións (13) Publicacións nas que participase algún/ha investigador/a

filter_list Pediatrics

2023

  1. Clinical Characterisation and Comorbidities of Acquired Generalised Lipodystrophy: A 14-Year Follow-Up Study

    Journal of Clinical Medicine, Vol. 12, Núm. 23

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

  2. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies

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

2021

  1. Characterization of a novel splicing variant in acylglycerol kinase (Agk) associated with fatal sengers syndrome

    International Journal of Molecular Sciences, Vol. 22, Núm. 24

2020

  1. Evidence of ongoing complement activation on adipose tissue from an 11-year-old girl with Barraquer–Simons syndrome

    Journal of Dermatology, Vol. 47, Núm. 12, pp. 1439-1444

  2. LipoDDx: A mobile application for identification of rare lipodystrophy syndromes

    Orphanet Journal of Rare Diseases, Vol. 15, Núm. 1

2018

  1. Association of metreleptin treatment and dietary intervention with neurological outcomes in Celia's encephalopathy

    European Journal of Human Genetics, Vol. 26, Núm. 3, pp. 396-406

  2. Transición desde la asistencia pediátrica a la adulta en pacientes con mucopolisacaridosis

    Revista Clinica Espanola, Vol. 218, Núm. 1, pp. 17-21

2016

  1. 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

2012

  1. Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

    Muscle and Nerve, Vol. 46, Núm. 6, pp. 961-964

2011

  1. A family with congenital hypothyroidism caused by a combination of loss-of-function mutations in the thyrotropin receptor and adenylate cyclase-stimulating G alpha-protein subunit genes

    Thyroid, Vol. 21, Núm. 2, pp. 103-109

2007

  1. Stress-induced alterations in the programmed natural cycles of post-natal lymphoid organ development in C57BL/6 mice: Evidence for a regulatory feedback relationship between bone marrow and thymus

    Immunobiology, Vol. 212, Núm. 8, pp. 613-627

2006

  1. Vitamin D treatment in childhood: an evidence based discussion

    Anales de medicina interna (Madrid, Spain : 1984), Vol. 23, Núm. 9, pp. 446-448