Keywords: Case report; Elosulfase alfa; Enzyme replacement therapy; Morquio A syndrome; Mucopolysaccharidosis type IV A; Non-ambulatory; ERT; enzyme replacement therapy; GAG; glycosaminoglycan; GALNS; N-acetylgalactosamine-6-sulfatase; KS; keratan sulfate; 3MSCT; 3
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Spectrum of GALNS mutations and haplotype study in Brazilian patients with Mucopolysaccharidosis type IVA
Keywords: C6S; chondroitin-6-sulfate; cDNA; complementary deoxyribonucleic acid; GAGs; glycosaminoglycans; GALNS; N-acetylgalactosamine-6-sulfatase; gDNA; genomic DNA; HCPA; Hospital de ClÃnicas de Porto Alegre; HGMD; The Human Gene Mutation Database; KS; keratan
Safety, immunogenicity, and clinical outcomes in patients with Morquio A syndrome participating in 2 sequential open-label studies of elosulfase alfa enzyme replacement therapy (MOR-002/MOR-100), representing 5â¯years of treatment
Keywords: Morquio A; Mucopolysaccharidosis IVA; Long-term extension; Elosulfase alfa; 3MSCT; 3-min stair climb test; 6MWT; 6-min walk test; AE; adverse event; AUC0ât; area under the curve from time 0 to last measurable concentration; AUCinf; area under the curve
Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease
Keywords: MPS IVA; Mucopolysaccharidosis type 4 -A; GALNS; N-acetylgalactosamine-6-sulfatase; GAGs; Glycosaminoglycans; NRC; National Research Centre; MPSs; Mucopolysaccharidoses; GLB1; β-Galactosidase; KS; Keratan Sulfate; C6S; Chondroitin-6-Sulfate; kDa; Kilo
Fluorimetric assays for N-acetylgalactosamine-6-sulfatase and arylsulfatase B based on the natural substrates for confirmation of mucopolysaccharidoses types IVA and VI
Keywords: ARSB; arylsulfatase B; DBS; dried blood spots on newborn screening cards; GALNS; N-acetylgalactosamine-6-sulfatase; 4MU; 4-methyl-umbelliferyl; 4MU-Gal-6-S; β-4MU glycoside of galactose-6-sulfate; 4MU-GalNAc-4/6-S; β-4MU glycoside of N-acetylgalactosami
N-Acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples
Keywords: GALNS, N-acetylgalactosamine-6-sulfatase; MPS IVA, mucopolysaccharidosis type IVA; LSD, lysosomal storage disorder; KS, keratan sulfate; CS, chondroitin sulfate.Lysosomal storage disorder; N-Acetylgalactosamine-6-sulfatase; Immune-quantification; Variant
Mucopolysaccharidosis type IV: N-Acetylgalactosamine-6-sulfatase mutations in Tunisian patients
Keywords: Mucopolysaccharidosis type IVA; Mutations; Morquio A syndrome; N-Acetylgalactosamine-6-sulfatase; Tunisia; MPS IV