Publicaciones en colaboración con investigadoras/es de Hospital Universitari Germans Trias i Pujol (18)

2024

  1. Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry

    Neuromuscular Disorders, Vol. 34, pp. 1-8

  2. Integrative clinical, hormonal, and molecular data associate with invasiveness in acromegaly: REMAH study

    European Journal of Endocrinology, Vol. 190, Núm. 6, pp. 421-433

  3. Long term outcomes of pituitary adenomas in Multiple Endocrine Neoplasia type 1: a nationwide study

    Frontiers in Endocrinology, Vol. 15

2023

  1. Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1

    Endocrinologia, Diabetes y Nutricion, Vol. 70, pp. 18-26

  2. Gut microbial dysbiosis in patients with Cushing’s disease in long-term remission. Relationship with cardiometabolic risk

    Frontiers in Endocrinology, Vol. 14

2022

  1. Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, Vol. 37, Núm. 10, pp. 1906-1915

  2. Initial clinical and treatment patterns of advanced differentiated thyroid cancer: ERUDIT study

    European Thyroid Journal, Vol. 11, Núm. 5

2019

  1. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

2018

  1. Bone metastasis located on foot as a clinical presentation of an adrenocortical carcinoma

    Endocrinologia, Diabetes y Nutricion, Vol. 65, Núm. 7, pp. 418-419

2017

  1. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

    PLoS ONE, Vol. 12, Núm. 3

2016

  1. Clinical and genetic characterization of congenital hyperinsulinism in Spain

    European Journal of Endocrinology, Vol. 174, Núm. 6, pp. 717-726

2014

  1. Escape and lipodystrophy in acromegaly during pegvisomant therapy, a retrospective multicentre Spanish study

    Clinical Endocrinology, Vol. 81, Núm. 6, pp. 883-890

2011

  1. Estudio OASIS: Manejo terapéutico de la acromegalia en un escenario de práctica clínica habitual. Evaluación de la eficacia de las diversas estrategias de tratamiento aplicadas

    Endocrinologia y Nutricion, Vol. 58, Núm. 9, pp. 478-486

2010

  1. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 4, pp. 1876-1888

2007

  1. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

2006

  1. Validity and clinical applicability of the acromegaly quality of life questionnaire, AcroQoL: A 6-month prospective study

    European Journal of Endocrinology, Vol. 155, Núm. 2, pp. 269-277

2003

  1. Male pseudohermaphroditism due to 17 β-hyroxysteroid dehydrogenase deficiency [3]

    Medicina Clinica

2002

  1. Acromegaly Quality of Life Questionnaire (ACROQOL) a new health-related quality of life questionnaire for patients with acromegaly: Development and psychometric properties

    Clinical Endocrinology, Vol. 57, Núm. 2, pp. 251-258