A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA. (Q36627142)

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5 March 2020

title

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA (English)

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5 March 2020

1

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5 March 2020

Igor Nestrasil

2

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5 March 2020

author name string

Kathleen A Delaney

3

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5 March 2020

Kyle Rudser

4

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5 March 2020

Victor Kovac

5

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5 March 2020

Nitin Nair

6

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5 March 2020

Charles W Richard

7

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5 March 2020

Patrick Haslett

8

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Chester B Whitley

9

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language of work or name

English

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publication date

16 January 2016

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The Journal of Pediatrics

5 March 2020

published in

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5 March 2020

volume

170

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5 March 2020

page(s)

278-87.e1-4

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Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA

5 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Natural history of Sanfilippo syndrome type A.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Mucopolysaccharidosis Type IIIA presents as a variant of Klüver-Bucy syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Defects in the medial entorhinal cortex and dentate gyrus in the mouse model of Sanfilippo syndrome type B.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Natural progression of neurological disease in mucopolysaccharidosis type II.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Cord-blood transplants from unrelated donors in patients with Hurler's syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

The Children's Sleep Habits Questionnaire (CSHQ): psychometric properties of a survey instrument for school-aged children

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Management of mucopolysaccharidosis type III.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

MR imaging of the various stages of normal myelination during the first year of life

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Intracerebral administration of adeno-associated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Normal brain development and aging: quantitative analysis at in vivo MR imaging in healthy volunteers

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Neuropsychological development in children with Hurler syndrome following hematopoietic stem cell transplantation.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Diagnostic uses of the Vineland Adaptive Behavior Scales

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Social deficits in autism: an operational approach using the Vineland Adaptive Behavior Scales

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Normal maturation of the neonatal and infant brain: MR imaging at 1.5 T.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Converging molecular pathways in human neural development and degeneration

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Dilated perivascular spaces: an informative radiologic finding in Sanfilippo syndrome type A.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

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

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Volume of the spleen in children as measured on CT scans: normal standards as a function of body weight

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

Calculation of child and adult standard liver volume for liver transplantation.

20 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4769976

A novel LC-MS/MS assay for heparan sulfate screening in the cerebrospinal fluid of mucopolysaccharidosis IIIA patients

20 September 2018

1 reference

12 December 2020

A quantitative magnetic resonance imaging study of changes in brain morphology from infancy to late adulthood

1 reference

12 December 2020

Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome)

1 reference

12 December 2020

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece

1 reference

12 December 2020

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

1 reference

12 December 2020

10.1016/J.JPEDS.2015.11.079

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26787381 AND SRC:MED&resulttype=core&format=json

5 March 2020

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5 March 2020

PubMed publication ID

26787381

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26787381 AND SRC:MED&resulttype=core&format=json