(Q73163858)

English

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

scientific article published on 01 November 2000

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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:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

mucopolysaccharidosis type IIIB

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

5

object named as

J J Hopwood

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

G Yogalingam

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

B Weber

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J Meehan

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J Rogers

4

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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publication date

1 November 2000

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Biochimica et Biophysica Acta

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1502

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

415-425

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Prevalence of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

The molecular basis of Sanfilippo syndrome type B

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

NAGLU mutations underlying Sanfilippo syndrome type B.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

High-resolution electrophoresis of urinary glycosaminoglycans: an improved screening test for the mucopolysaccharidoses

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Production of high-titer helper-free retroviruses by transient transfection

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activity.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Feline mucopolysaccharidosis type VI: correction of glycosaminoglycan storage in myoblasts by retrovirus-mediated transfer of the feline N-acetylgalactosamine 4-sulfatase gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900066-1

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0925-4439(00)00066-1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 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:11068184%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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