(Q48372095)

English

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations

scientific article published in February 2001

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Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

1 reference

based on heuristic

inferred from title

Sanfilippo syndrome

1 reference

based on heuristic

inferred from title

author name string

M J Coll

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

C Antón

2

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

A Chabás

3

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

publication date

1 February 2001

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

Journal of Inherited Metabolic Disease

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

24

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

1

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

83-84

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

NAGLU mutations underlying Sanfilippo syndrome type B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/11286389

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/11286389

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/11286389

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/11286389

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/11286389

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1005627311402

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 February 2018

http://europepmc.org/abstract/MED/11286389

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