Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome (Q73279969)

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scientific article published on 01 December 1999

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English	Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome	scientific article published on 01 December 1999

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10601282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10601282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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K J Perkins

1

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2 November 2019

G Yogalingam

3

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10601282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

B Weber

4

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2 November 2019

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1 December 1999

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2 November 2019

Journal of Biological Chemistry

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2 November 2019

274

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2 November 2019

52

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2 November 2019

37193-37199

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2 November 2019

Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (types A, B, and C)

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Prevalence of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Recombinant human sulphamidase: expression, amplification, purification and characterization

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Structure and sequence of the human sulphamidase gene

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Human alpha-L-iduronidase. 1. Purification, monoclonal antibody production, native and subunit molecular mass

1 reference

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21 January 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Immunoquantification of the low abundance lysosomal enzyme N-acetylgalactosamine 4-sulphatase

1 reference

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21 January 2018

Correction of human mucopolysaccharidosis type-VI fibroblasts with recombinant N-acetylgalactosamine-4-sulphatase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Structure of a human lysosomal sulfatase

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

Molecular defects in Sanfilippo syndrome type A

1 reference

https://api.crossref.org/works/10.1074%2FJBC.274.52.37193

21 January 2018

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

1 reference

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21 January 2018

Identifiers

10.1074/JBC.274.52.37193

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10601282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10601282%20AND%20SRC:MED&resulttype=core&format=json

2 November 2019

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