Proyecto FINDresultados del primer año de trabajo en la detección precoz de las mucopolisacaridosis
ISSN: 0001-6640
Year of publication: 2015
Volume: 73
Issue: 10
Pages: 265-267
Type: Article
More publications in: Acta pediátrica española
Abstract
Since summer 2014, we start the FIND project. This project is result of collaboration with the Asociación MPS España to perform a screening based on symptoms in children. The screening is currently underway determining the glycosaminoglycans (GAG) levels in a urine sample impregnated on paper. Through participation of Spanish pediatricians, we have received 71 samples and we have been identified 4 cases of mucopolysaccharidosis (MPS): one for each of following types I, II, III and VI. The GAG’s determination using urine-impregnated filter paper seems a fast, simple and reliable MPS screening.