sildenafil-citrate and Mucopolysaccharidosis-III

sildenafil-citrate has been researched along with Mucopolysaccharidosis-III* in 1 studies

Other Studies

1 other study(ies) available for sildenafil-citrate and Mucopolysaccharidosis-III

Article	Year
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene. Journal of inherited metabolic disease, 2005, Volume: 28, Issue:4 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). Topics: Codon, Nonsense; Echocardiography; Female; Hepatomegaly; Humans; Infant; Mucopolysaccharidosis III; Mutation, Missense; Piperazines; Purines; Sildenafil Citrate; Splenomegaly; Sulfatases; Sulfones; Time Factors; Vasodilator Agents	2005

Article

Year

Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene.

Journal of inherited metabolic disease, 2005, Volume: 28, Issue:4

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).

Topics: Codon, Nonsense; Echocardiography; Female; Hepatomegaly; Humans; Infant; Mucopolysaccharidosis III; Mutation, Missense; Piperazines; Purines; Sildenafil Citrate; Splenomegaly; Sulfatases; Sulfones; Time Factors; Vasodilator Agents

2005