(Q34354566)

1 August 2017

title

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype (English)

1 reference

mucopolysaccharidosis type IIIB

1 August 2017

main subject

1 reference

1 reference

Renske Olmer

3

1 reference

1 August 2017

Marlies J. Valstar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

16 July 2024

Hennie T. Bruggenwirth

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

16 July 2024

Ron A. Wevers

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

16 July 2024

Frans W. Verheijen

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

16 July 2024

Ben J. Poorthuis

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

16 July 2024

Dicky J. Halley

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

16 July 2024

Frits A. Wijburg

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

16 July 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20852935

16 July 2024

publication date

18 September 2010

1 reference

full work available at URL

1 August 2017

https://europepmc.org/articles/pmc2992652?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20852935/?tool=EBI

16 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20852935/pdf/?tool=EBI

16 July 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

https://europepmc.org/articles/PMC2992652

16 July 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

https://europepmc.org/articles/PMC2992652?pdf=render

16 July 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20852935

https://onlinelibrary.wiley.com/doi/pdf/10.1007/s10545-010-9199-y

16 July 2024

1 reference

10.1007/S10545-010-9199-Y

Crossref

DOI

https://api.crossref.org/works/10.1007/S10545-010-9199-Y

https://onlinelibrary.wiley.com/doi/full-xml/10.1007/s10545-010-9199-y

16 July 2024

1 reference

10.1007/S10545-010-9199-Y

Crossref

DOI

https://api.crossref.org/works/10.1007/S10545-010-9199-Y

Journal of Inherited Metabolic Disease

16 July 2024

published in

1 reference

1 August 2017

volume

33

1 reference

1 August 2017

issue

6

1 reference

1 August 2017

page(s)

759-767

1 reference

Sanfilippo B in an elderly female psychiatric patient: a rare but relevant diagnosis in presenile dementia

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Sanfilippo syndrome: a mini-review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Gene therapy for mucopolysaccharidosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

The frequency of lysosomal storage diseases in The Netherlands.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

NAGLU mutations underlying Sanfilippo syndrome type B.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Genotype-phenotype correspondence in Sanfilippo syndrome type B.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

The molecular basis of Sanfilippo syndrome type B

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Sanfilippo B syndrome: molecular defects in Greek patients.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2992652

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

27 October 2018

1 reference

12 December 2020

Identification and characterization of a novel homozygous deletion in the alpha-N-acetylglucosaminidase gene in a patient with Sanfilippo type B syndrome (mucopolysaccharidosis IIIB)

1 reference

12 December 2020

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

1 reference

12 December 2020

Follow-up on seven adult patients with mild Sanfilippo B-disease

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters

1 reference

12 December 2020

Clinical variability in Sanfilippo B disease: a report on six patients in two related sibships

1 reference

12 December 2020

10.1007/S10545-010-9199-Y

Identifiers

DOI

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4dnh52hogbg4zjw4tj3vmcgrwe

30 July 2022

Dimensions Publication ID

1041034427

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Fatcat ID

release_4dnh52hogbg4zjw4tj3vmcgrwe

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Fatcat

https://api.fatcat.wiki/v0/release/4dnh52hogbg4zjw4tj3vmcgrwe

30 July 2022

https://api.fatcat.wiki/v0/release/4dnh52hogbg4zjw4tj3vmcgrwe

1 reference

30 July 2022

https://api.fatcat.wiki/v0/release/4dnh52hogbg4zjw4tj3vmcgrwe

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30 July 2022