(Q41857836)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

mucopolysaccharidosis type IIIB

10 December 2019

main subject

1 reference

Bunge S

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Knigge A

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Steglich C

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Kleijer WJ

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

van Diggelen OP

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Beck M

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

Gal A

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

language of work or name

English

0 references

publication date

1 January 1999

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

Journal of Medical Genetics

10 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

page(s)

28-31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

NAGLU mutations underlying Sanfilippo syndrome type B.

10 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Novel mutations in Sanfilippo A syndrome: implications for enzyme function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

The molecular basis of Sanfilippo syndrome type B

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762943

Sanfilippo disease in Greece

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9950362

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Carrier detection in Sanfilippo syndrome type B: report of six families

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9950362

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9950362%20AND%20SRC:MED&resulttype=core&format=json

10 December 2019

PubMed publication ID

9950362

1 reference