Llwytho...

An Uncommon Presentation of Mucopolysaccharidosis Type IIIb

Mucopolysaccharidosis type III (MPS III; Sanfilippo syndrome) is a metabolic disorder characterized by a lysosomal enzyme deficiency in the catabolic pathway of heparan sulfate. The patients with mucopolysaccharidosis type III usually present with declined neurocognitive functions such as speech and...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Iran J Child Neurol
Prif Awduron: REZAYI, Alireza, FESHANGCHI-BONAB, Mohammad, TAHERIAN, Reza
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Shahid Beheshti University of Medical Sciences 2019
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6586455/
https://ncbi.nlm.nih.gov/pubmed/31327975
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!