Identification of a novel mutation in FGFR1 gene in mother and daughter with Kallmann syndrome.

Autor: García-García E; Pediatric Endocrinology Unit, Virgen del Rocío University Hospital, Sevilla, Spain., Fernández RM; Department of Maternofetal Medicine, Genetics and Reproduction, Virgen del Rocío University Hospital, Sevilla, Spain., Navarro-Moreno C; Pediatric Endocrinology Unit, Virgen del Rocío University Hospital, Sevilla, Spain., Gómez-Gila AL; Pediatric Endocrinology Unit, Virgen del Rocío University Hospital, Sevilla, Spain., Borrego S; Department of Maternofetal Medicine, Genetics and Reproduction, Virgen del Rocío University Hospital, Sevilla, Spain.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2022 Aug 08; Vol. 35 (10), pp. 1306-1308. Date of Electronic Publication: 2022 Aug 08 (Print Publication: 2022).

Hypoparathyroidism after thyroidectomy: A 20-year experience at a children's hospital.

Autor: García-García E; Unidad de Endocrinología Pediátrica, Hospital Virgen del Rocío, Sevilla, España. Electronic address: ejgg67@gmail.com., Gómez-Gila AL; Unidad de Endocrinología Pediátrica, Hospital Virgen del Rocío, Sevilla, España., Romero-Lluch AR; Servicio de Endocrinología y Nutrición, Hospital Virgen del Rocío, Sevilla, España., Conde-Sánchez M; Servicio de Bioquímica Clínica, Hospital Virgen del Rocío, Sevilla, España., Domínguez-Pascual I; Servicio de Bioquímica Clínica, Hospital Virgen del Rocío, Sevilla, España., Fernández Pineda I; Servicio de Cirugía Pediátrica, Hospital Virgen del Rocío, Sevilla, España., Cabello-Laureano R; Servicio de Cirugía Pediátrica, Hospital Virgen del Rocío, Sevilla, España.

Publikováno v: Endocrinologia, diabetes y nutricion [Endocrinol Diabetes Nutr (Engl Ed)] 2021 Jul 13. Date of Electronic Publication: 2021 Jul 13.

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

Autor: Martínez de LaPiscina I; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Hernández-Ramírez LC; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Portillo N; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Pediatric Endocrinology Service, Alto Deba Hospital, Arrasate, Spain., Gómez-Gila AL; Pediatric Endocrinology Service, Virgen del Rocío University Hospital, Sevilla, Spain., Urrutia I; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Martínez-Salazar R; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., García-Castaño A; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Aguayo A; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Rica I; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Pediatric Endocrinology Service, Cruces University Hospital, Barakaldo, Spain., Gaztambide S; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain.; Endocrinology Service, Cruces University Hospital, Barakaldo, Spain., Faucz FR; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Keil MF; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Lodish MB; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.; Division of Pediatric Endocrinology, Department of Pediatrics, Mission Hall, University of California, San Francisco, San Francisco, CA, United States., Quezado M; Laboratory of Pathology, National Cancer Institute, National Institutes of Health (NIH), Bethesda, MD, United States., Pankratz N; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United States., Chittiboina P; Neurosurgery Unit for Pituitary and Inheritable Diseases, National Institute of Neurological Disorders and Stroke, Bethesda, MD, United States., Lane J; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, MN, United States., Kay DM; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY, United States., Mills JL; Epidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States., Castaño L; Section on Endocrinology, Metabolism, Nutrition and Renal Diseases, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV/EHU, CIBERER, CIBERDEM, Barakaldo, Spain., Stratakis CA; Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, United States.

Publikováno v: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2020 Jul 03; Vol. 11, pp. 433. Date of Electronic Publication: 2020 Jul 03 (Print Publication: 2020).

Ketoacidosis at onset of type 1 diabetes mellitus in pediatric age in Spain and review of the literature.

Autor: Oyarzabal Irigoyen M; Complejo Hospitalario de Navarra, Pamplona., García Cuartero B, Barrio Castellanos R, Torres Lacruz M, Gómez Gila AL, González Casado I, Hermoso López F, Luzuriaga Tomás C, Rica Etxebarrial I, López García MJ, Rodríguez Rigual M

Publikováno v: Pediatric endocrinology reviews : PER [Pediatr Endocrinol Rev] 2012 Mar; Vol. 9 (3), pp. 669-71.