Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (5)

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

2022

  1. A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism—Case Report

    Frontiers in Endocrinology, Vol. 13

  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