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Journal Article
HUMAN MUTATION, ISSN 1059-7794, 06/2004, Volume 23, Issue 6, pp. 559 - 566
Mucopolysaccharidosis type IIIA (MPSIIIA) is an autosomal recessive lysosomal storage disease caused by mutations in the N-sulfoglucosamine sulfohydrolase gene... 
DEFECTS | lysosomal storage disease | sulphamidase | sulfamidase | MSPIIIA | RECOMBINANT HUMAN SULFAMIDASE | SULFATASE GENE | SANFILIPPO | SGSH | mucopolysaccharidosis III A | GENETICS & HEREDITY | MUTATIONS | Sanfilippo syndrome | EXPRESSION
Journal Article
Biochemical Journal, ISSN 0264-6021, 04/2007, Volume 403, Issue 2, pp. 305 - 312
Sulfatases are enzymes that hydrolyse a diverse range of sulfate esters. Deficiency of lysosomal sulfatases leads to human diseases characterized by the... 
Adeno-associated virus (AAV) | Sulfatase | Lentivirus | Sulfatase-modifying factor 1 (SUMF1) | Formylglycine-generating enzyme (FGE) | Lysosomal storage disorder | adeno-associated virus (AAV) | FORMYLGLYCINE-GENERATING ENZYME | GENE DELIVERY | BIOCHEMISTRY & MOLECULAR BIOLOGY | sulfatase | METACHROMATIC LEUKODYSTROPHY | ARYLSULFATASE-A | lysosomal storage disorder | LENTIVIRAL VECTORS | THERAPY | MOUSE MODEL | DISEASE | formylglycine-generating enzyme (FGE) | MICE | sulfatase-modifying factor 1 (SUMF1) | MPS-IIIA | lentivirus | Sulfatases - genetics | Isoenzymes - genetics | Humans | Cells, Cultured | Male | Sulfatases - deficiency | Mutation - genetics | Cysteine - genetics | Protein Transport | Lentivirus - metabolism | Animals | Muscles - enzymology | Isoenzymes - metabolism | Sulfatases - metabolism | Adenoviridae - genetics | Lentivirus - genetics | Cysteine - metabolism | Mice | Index Medicus | HSPC, haemopoietic stem | MPS, mucopolysaccharidosis | progenitor cells | AAV, adeno-associated virus | SUMF1, sulfatase-modifying factor 1 | BM, bone marrow | DMEM, Dulbecco's modified Eagle's medium | CDPX, X-linked dominant chondrodysplasia punctata | LV, lentivirus | MSD, multiple sulfatase deficiency | PBMC, peripheral blood mononuclear cell | GFP, green fluorescent protein | MLD, metachromatic leukodystrophy | IDS, iduronate sulfatase | GAG, glycosaminoglycan | p-NC, p-nitrocatechol sulfate | DAPI, 4′,6-diamidino-2-phenylindole | ARS, arylsulfatase | HA, haemagglutinin | PGK, phosphoglycerate kinase | SGSH, sulfamidase | CMV, cytomegalovirus | HEK-293T, human embryonic kidney
Journal Article
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 06/2018, Volume 15, pp. 124 - 126
Mucopolysaccharidoses (MPS) type III also termed as Sanfillipo syndrome, involves defect in enzymes required for degradation of heparan sulphate. We report a... 
Sanfillipo syndrome | Mucopolysaccharidoses | SGSH | IIIA | GENETICS & HEREDITY
Journal Article
Molecular Genetics and Metabolism Reports, ISSN 2214-4269, 2014, Volume 1, Issue C, pp. 422 - 424
Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case... 
Mucopolysaccharidosis | SGSH gene | Sanfilippo syndrome | Cardiomyopathy | MPS III | Cardiac disease
Journal Article
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