2 results match your criteria: "Servicios de Neonatología. Hospital Infantil La Fe. Valencia.[Affiliation]"
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
Medicine (Baltimore)
July 2018
Consulta de Neurodegenerativas, Sección de Neurología Pediátrica, Hospital Infantil Universitario Niño Jesús Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia; Grupo Clínico vinculado al Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid Servicio de Neurología Pediátrica, Hospital Universitario Vall d'Hebrón, Vall d'Hebrón, Universitat Autònoma de Barcelona, Barcelona Unidad de Nutrición y Metabolopatías. Hospital Infantil La Fe. Valencia Unidad de Dismorfología, Hospital Universitario Virgen del Rocío, Sevilla Metabolic Unit, Service of Neonatology. Department of Pediatrics. Hospital Clínico Universitario de Santiago, IDIS, CIBERER, ISCIII, Santiago de Compostela, Spain.
Hunter syndrome or mucopolysaccharidosis type II (MPSII) is a progressive multisystem X-linked lysosomal storage disease caused by mutations in the IDS gene that shows a wide spectrum of clinical symptoms and severity. Idursulfase, a specific enzyme replacement therapy (ERT) for MPSII, has been available since 2007. ERT, along with symptomatic management of patients, is fundamental for improving patient prognosis and quality of life.
View Article and Find Full Text PDFCongenital depressed skull fracture is rare and in most cases its etiology remains unclear. We present a female newborn infant with a congenital depressed skull fracture and no evidence of antepartum or intrapartum traumatism. The baby had normal neurological status and the depressed fracture healed spontaneously in a few weeks.
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