(Q81811028)

English

Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan

scientific article published on 03 June 2005

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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:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

1 reference

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author name string

Yasutsugu Chinen

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Takaya Tohma

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Yoshinori Izumikawa

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Hiroyuki Uehara

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Takao Ohta

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

publication date

3 June 2005

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

50

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

357-359

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

https://scigraph.springernature.com/pub.10.1007/s10038-005-0258-4

0 references

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The molecular basis of Sanfilippo syndrome type B

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NAGLU mutations underlying Sanfilippo syndrome type B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

46 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis of the alpha-N-acetylglucosaminidase gene in seven Japanese patients from six unrelated families with mucopolysaccharidosis IIIB (Sanfilippo type B), including two novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Incidence of the mucopolysaccharidoses in Northern Ireland

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15933803

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-005-0258-4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15933803%20AND%20SRC:MED&resulttype=core&format=json

12 January 2020

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