(Q28201581)

Behaviour in mucopolysaccharide disorders

21 January 2018

1 reference

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

21 January 2018

1 reference

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

21 January 2018

1 reference

A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant

21 January 2018

1 reference

A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).

21 January 2018

1 reference

Correction of Sanfilippo A skin fibroblasts by retroviral vector-mediated gene transfer

21 January 2018

1 reference

Recombinant human sulphamidase: expression, amplification, purification and characterization

21 January 2018

1 reference

Molecular defects in Sanfilippo syndrome type A

21 January 2018

1 reference

Structure of a human lysosomal sulfatase

21 January 2018

1 reference

Management of mucopolysaccharidosis type III.

21 January 2018

1 reference

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations

21 January 2018

1 reference

Prenatal diagnosis of sanfilippo type A syndrome in a family with S66W mutant allele

21 January 2018

1 reference

Heparan N-sulfatase: in vitro mutagenesis of potential N-glycosylation sites

21 January 2018

1 reference

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

21 January 2018

1 reference

Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A).

21 January 2018

1 reference

A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

21 January 2018

1 reference

Human liver sulphamate sulphohydrolase. Determinations of native protein and subunit Mr values and influence of substrate agylcone structure on catalytic properties

21 January 2018

1 reference

Structure and sequence of the human sulphamidase gene

21 January 2018

1 reference

Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase

21 January 2018

1 reference

Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis

21 January 2018

1 reference

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients

21 January 2018

1 reference

Purification and Partial Characterization of α-N-Acetylglucosaminidase from Human Liver1

21 January 2018

1 reference

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

21 January 2018

1 reference

NAGLU mutations underlying Sanfilippo syndrome type B.

21 January 2018

1 reference

Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome

21 January 2018

1 reference

Morquio disease: isolation, characterization and expression of full-length cDNA for human N-acetylgalactosamine-6-sulfate sulfatase

21 January 2018

1 reference

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

21 January 2018

1 reference

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

21 January 2018

1 reference

21 January 2018

1 reference

Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase

21 January 2018

1 reference

The molecular basis of Sanfilippo syndrome type B

21 January 2018

1 reference

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

21 January 2018

1 reference

Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells

21 January 2018

1 reference

Mucopolysaccharidosis IIIA (Sanfilippo syndrome) in a New Zealand Huntaway dog with ataxia

21 January 2018

1 reference

7 January 2021

Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome

1 reference

7 January 2021

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

1 reference

7 January 2021

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes

1 reference

7 January 2021

Mucopolysaccharidosis type IIIB: characterisation and expression of wild-type and mutant recombinant alpha-N-acetylglucosaminidase and relationship with sanfilippo phenotype in an attenuated patient

1 reference

7 January 2021

Identifiers

DOI

10.1002/HUMU.1189

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

11668611

1 reference

Consolidated OpenCitations Corpus – April 2017