Disease: N-acetyl glucosamine 6-sulfate sulfatase deficiency
- A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines
- A sensitive procedure for the diagnosis of N-acetyl-galactosamine-6-sulfate sulfatase deficiency in classical Morquio's disease
- Activities of sulfatases for the degradation of acidic glycosaminoglycans in cultured skin fibroblasts from two siblings with multiple sulfatase deficiency
- Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy
- Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases
- Deficiencies of glucosamine-6-sulfate or galactosamine-6-sulfate sulfatases are responsible for different mucopolysaccharidoses
- Design and synthesis of substrate and internal standard conjugates for profiling enzyme activity in the Sanfilippo syndrome by affinity chromatography/electrospray ionization mass spectrometry
- Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase
- Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes
- Genetic complementation studies of multiple sulfatase deficiency
- Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase
- Integrated Management of an Adult Patient with Mucopolysaccharidosis type IVA: A Case Report with a Six-Year Follow-up
- Intralysosomal formation and metabolic fate of N-acetylglucosamine 6-sulfate from keratan sulfate
- Isolation and characterization of N-acetylglucosamine 6-sulfate from the urine of a patient with Sanfilippo type D syndrome and its occurrence in normal urine
- Keratan and herparan sulfaturia: glucosamine-6-sulfate deficiency
- Liberation of N-acetylglucosamine-6-sulfate by human beta-N-acetylhexosaminidase A
- Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID
- Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management
- Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences
- Multiple deficiency of mucopolysaccharide sulfatases in mucosulfatidosis
- N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme
- N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID)
- N-acetylglucosamine-6-sulfate sulfatase deficiency reconsidered
- N-acetylglucosamine-6-sulfate sulfatase in man: deficiency of the enzyme in a new mucopolysaccharidosis
- Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients
- Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate
- Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation
- Sanfilippo syndrome, type D: a spectrophotometric assay with prenatal diagnostic potential
- Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis
- Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis
- Type III D mucopolysaccharidosis (Sanfilippo D): clinical course and symptoms
- Urinary excretion of sulphated N-acetylhexosamines in patients with various mucopolysaccharidoses