Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report

INTRODUCTION: Sanfilippo syndrome type A (mucopolysaccharidosis IIIA - MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by a deficiency in sulfamidase. CASE PRESENTATION: Two daughters (13 and 11 years old) of a consanguineous Palestinian family from the Israeli Arab community w...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
Main Authors: Sharkia, Rajech, Mahajnah, Muhammad, Zalan, Abdelnaser, Sourlis, Chrysovalantis, Bauer, Peter, Schöls, Ludger
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3943435/
https://ncbi.nlm.nih.gov/pubmed/24576347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-8-78
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki