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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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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2014
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| Matèries: | |
| 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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