An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

INTRODUCTION: Mucopolysaccharidosis type I (MPS I) is a progressive multisystem lysosomal storage disease caused by deficiency of the enzyme α-L-iduronidase (IDUA). Patients present with a continuous spectrum of disease severity, and the most severely affected patients (Hurler phenotype; MPS I-H) de...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Kingma, Sandra DK, Langereis, Eveline J, de Klerk, Clasine M, Zoetekouw, Lida, Wagemans, Tom, IJlst, Lodewijk, Wanders, Ronald JA, Wijburg, Frits A, van Vlies, Naomi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2013
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3710214/
https://ncbi.nlm.nih.gov/pubmed/23837464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-99
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados