Mar 30, 2025 · SGSH (N-Sulfoglucosamine Sulfohydrolase) is a Protein Coding gene. Diseases associated with SGSH include Mucopolysaccharidosis, Type Iiia and Mucopolysaccharidosis …

N-sulphoglucosamine sulphohydrolase is an enzyme that in humans is encoded by the SGSH gene. [5][6] A number sign (#) is used with this entry because the phenotype is caused by …

results demonstrate that a single systemic scAAVrh74-hSGSH delivery mediated efficient restoration of SGSH activity and resulted in a near complete correction of MPS IIIA molecular …

该基因编码磺酰胺酶；参与硫酸乙酰肝素溶酶体降解的几种酶之一。 该基因的突变与溶酶体贮积病粘多糖贮积症 IIIA 有关，也称为 Sanfilippo 综合征 A，由硫酸乙酰肝素降解受损引起。 已报 …

SGSH belongs to the sulfatase family and catalyses the cleavage of N-linked sulfate groups from the GAGs heparan sulfate and heparin. The active site is characterized by the amino-acid …

The SGSH gene provides instructions for producing an enzyme called sulfamidase. This enzyme is located in lysosomes, compartments within cells that digest and recycle different types of …

Oct 2, 2020 · N-sulfoglucosamine sulfohydrolase (SGSH) belongs to the sulfatase family and catalyses the cleavage of N-linked sulfate groups from the GAGs heparin sulfate and heparin. …

May 3, 2023 · The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A …

Jun 17, 2024 · Clinical resource with information about SGSH, Mucopolysaccharidosis, MPS-III-A, and available tests. There are links to practice guidelines and authoritative resources like …

A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe …