Publicaciones en colaboración con investigadores/as de Universitat Autònoma de Barcelona (33)

2023

  1. Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8

    The Journal of clinical endocrinology and metabolism, Vol. 108, Núm. 11, pp. e1316-e1328

  2. Hormonal control during infancy and testicular adrenal rest tumor development in males with congenital adrenal hyperplasia: a retrospective multicenter cohort study

    European journal of endocrinology, Vol. 189, Núm. 4, pp. 460-468

2022

  1. Increased Presentation of Diabetic Ketoacidosis and Changes in Age and Month of Type 1 Diabetes at Onset during the COVID-19 Pandemic in Spain

    Journal of Clinical Medicine, Vol. 11, Núm. 15

  2. Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report

    Frontiers in Endocrinology, Vol. 13

2021

  1. Growth hormone treatment and papilledema: A prospective pilot study

    JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 13, Núm. 2, pp. 146-151

  2. Myocardial Geometry and Dysfunction in Morbidly Obese Adolescents (BMI 35–40 kg/m2)

    American Journal of Cardiology, Vol. 157, pp. 128-134

  3. Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid

    The Journal of clinical endocrinology and metabolism, Vol. 106, Núm. 1, pp. e152-e170

  4. Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile

    Endocrinologia, Diabetes y Nutricion, Vol. 68, Núm. 9, pp. 612-620

  5. Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis

    Endocrine, Vol. 71, Núm. 3, pp. 586-594

2020

  1. Graves disease with negative TSH receptor antibodies: A presentation of 5 cases

    Anales de Pediatria, Vol. 93, Núm. 6, pp. 417-419

2017

  1. Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature

    European Journal of Medical Genetics, Vol. 60, Núm. 10, pp. 517-520

2013

  1. Deficiencia de hormona de crecimiento (GH) en la edad pediátrica

    Revista Espanola de Pediatria, Vol. 69, Núm. 6, pp. 286-292

  2. Height gain at adult-height age in 184 short patients treated with growth hormone from prepubertal age to near adult-height age is not related to GH secretory status at GH therapy onset

    Hormone Research in Paediatrics, Vol. 79, Núm. 3, pp. 145-156

2012

  1. Contribution of human growth hormone-releasing hormone receptor (GHRHR) gene sequence variation to isolated severe growth hormone deficiency (ISGHD) and normal adult height

    Clinical Endocrinology, Vol. 77, Núm. 4, pp. 564-574

2011

  1. Characterization of novel StAR (Steroidogenic Acute Regulatory Protein) mutations causing non-classic lipoid adrenal hyperplasia

    PLoS ONE, Vol. 6, Núm. 5

  2. Children's experience on the move: Group treatment program of childhood obesity, a holistic way of approaching the problem

    Revista Espanola de Nutricion Humana y Dietetica, Vol. 15, Núm. 3, pp. 106-108

  3. Growth hormone secretory status evaluated by growth hormone peak after two pharmacological growth hormone release stimuli did not significantly influence the two-year catch-up growth induced by growth hormone therapy in 318 prepubertal short children with idiopathic growth retardation

    Hormone Research in Paediatrics, Vol. 75, Núm. 2, pp. 106-114

  4. Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity

    Journal of Clinical Endocrinology and Metabolism, Vol. 96, Núm. 1

  5. Macroorchidism and panhypopituitarism: Two different forms of presentation of FSH-secreting pituitary adenomas in adolescence

    Hormone Research in Paediatrics, Vol. 75, Núm. 3, pp. 225-230

2010

  1. Glycogen storage disease type III with hypoketosis

    Journal of Pediatric Endocrinology and Metabolism, Vol. 23, Núm. 8, pp. 833-836