Case Reports
doi: 10.1007/s10545-005-0601-0.
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene
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- PMID: 15902564
- DOI: 10.1007/s10545-005-0601-0
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Case Reports
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene
J Inherit Metab Dis.
2005.
Abstract
An early presentation of heparan N-sulphatase (SGSH) deficiency (mucopolysaccharidosis IIIA, MPS IIIA) with a prominent and isolated hepato-splenomegaly is described. Molecular analysis detected a nonsense mutation (Y40X) and two de novo missense mutations (E300V; Q307P).
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