Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase (Q44306008)

1 December 2017

Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase (English)

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mucopolysaccharidosis type IIID

1 December 2017

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3

Robert A Hegele

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author name string

Andrea Mok

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1

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PubMed ID

12573255

1 December 2017

Henian Cao

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2

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1 December 2017

1 January 2003

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1 December 2017

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1 December 2017

81

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1-5

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1 December 2017

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Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

1 December 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Prevalence of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Sanfilippo type D disease: clinical findings in two patients with a new variant of mucopolysaccharidosis III

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Sanfilippo syndrome type D

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https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Sanfilippo syndrome type D in two adolescent sisters

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Sanfilippo type D presenting with acquired language disorder but without features of mucopolysaccharidosis

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https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

The ultrastructure of skin from a patient with mucopolysaccharidosis IIID.

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https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Metabolic studies of glycosphingolipid accumulation in mucopolysaccharidosis IIID.

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https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Human liver N-acetylglucosamine-6-sulphate sulphatase. Purification and characterization

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Human liver N-acetylglucosamine-6-sulphate sulphatase. Catalytic properties

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Human glucosamine-6-sulfatase cDNA reveals homology with steroid sulfatase

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Clinical heterogeneity in Sanfilippo disease (mucopolysaccharidosis III) type D: presentation of two new cases

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Human glucosamine-6-sulphatase deficiency. Diagnostic enzymology towards heparin-derived trisaccharide substrates

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID)

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Caprine mucopolysaccharidosis-IIID: clinical, biochemical, morphological and immunohistochemical characteristics.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Molecular defect of caprine N-acetylglucosamine-6-sulphatase deficiency. A single base substitution creates a stop codon in the 5'-region of the coding sequence.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Prenatal testing for caprine N-acetylglucosamine-6-sulphatase deficiency and sex identification.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

Caprine mucopolysaccharidosis IIID: a preliminary trial of enzyme replacement therapy.

1 reference

https://api.crossref.org/works/10.1016%2FS0888-7543%2802%2900014-9

7 January 2021

10.1016/S0888-7543(02)00014-9

Identifiers

DOI

1 reference

1 December 2017

1 reference

PubMed ID

12573255