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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Detalles Bibliográficos
Autores principales: Sharkia, Rajech, Mahajnah, Muhammad, Zalan, Abdelnaser, Sourlis, Chrysovalantis, Bauer, Peter, Schöls, Ludger
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943435/
https://www.ncbi.nlm.nih.gov/pubmed/24576347
http://dx.doi.org/10.1186/1752-1947-8-78

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3943435/
https://www.ncbi.nlm.nih.gov/pubmed/24576347
http://dx.doi.org/10.1186/1752-1947-8-78

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