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...

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Dades bibliogràfiques
Autors principals: Sharkia, Rajech, Mahajnah, Muhammad, Zalan, Abdelnaser, Sourlis, Chrysovalantis, Bauer, Peter, Schöls, Ludger
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2014
Matèries:
Case Report
Accés en línia: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
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