Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). (Q35089081)

6 August 2017

Cognitive development in patients with Mucopolysaccharidosis type III (Sanfilippo syndrome). (English)

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6 August 2017

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Marlies J Valstar

1

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6 August 2017

Jan Pieter Marchal

2

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6 August 2017

Martha Grootenhuis

3

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6 August 2017

Vivian Colland

4

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6 August 2017

Frits A Wijburg

5

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6 August 2017

20 June 2011

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Orphanet Journal of Rare Diseases

6 August 2017

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6 August 2017

6

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6 August 2017

43

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https://scigraph.springernature.com/pub.10.1186/1750-1172-6-43

6 August 2017

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cites work

Mucopolysaccharidosis type III (Sanfilippo Syndrome): emerging treatment strategies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Sanfilippo syndrome: a mini-review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Autism and Metabolic Diseases

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Gene therapy for mucopolysaccharidosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

The frequency of lysosomal storage diseases in The Netherlands.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Management of mucopolysaccharidosis type III.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Neuropsychological evaluation of adults with Down's syndrome: patterns of selective impairment in non-demented old adults.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

The psychometric properties of the Vineland Adaptive Behavior Scales in children and adolescents with mental retardation.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

Developmental and degenerative patterns associated with cognitive, behavioural and motor difficulties in the Sanfilippo syndrome: an epidemiological study.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3130633

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

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21689409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21689409

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-6-43

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Dimensions Publication ID

6 August 2017

0 references

1 reference

6 August 2017

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