(Q35183102)

7 August 2017

0 references

Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III. (English)

1 reference

7 August 2017

1 reference

6

1 reference

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3 June 2020

author name string

Lindsey Welling

1

1 reference

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3 June 2020

Jan Pieter Marchal

2

1 reference

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3 June 2020

Peter van Hasselt

3

1 reference

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3 June 2020

Ans T van der Ploeg

4

1 reference

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3 June 2020

Frits A Wijburg

5

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3 June 2020

publication date

26 September 2014

1 reference

Journal of Inherited Metabolic Disorders Reports

7 August 2017

1 reference

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3 June 2020

volume

18

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3 June 2020

page(s)

63-68

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256447%20AND%20SRC:MED&resulttype=core&format=json

Natural history of Sanfilippo syndrome type A.

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

Current international perspectives on hematopoietic stem cell transplantation for inherited metabolic disorders.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

Sanfilippo syndrome: a mini-review

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group

13 July 2018

1 reference

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Novel mutations in Sanfilippo A syndrome: implications for enzyme function

13 July 2018

1 reference

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13 July 2018

1 reference

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Microglia: The Effector Cell for Reconstitution of the Central Nervous System following Bone Marrow Transplantation for Lysosomal and Peroxisomal Storage Diseases

13 July 2018

1 reference

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

13 July 2018

1 reference

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Measuring urinary glycosaminoglycans in the presence of protein: an improved screening procedure for mucopolysaccharidoses based on dimethylmethylene blue.

13 July 2018

1 reference

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Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

27 September 2018

1 reference

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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=4361923

Disaccharide structure code for the easy representation of constituent oligosaccharides from glycosaminoglycans

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4361923

Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy

27 September 2018

1 reference

12 December 2020

Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling

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

Bone marrow transplantation for Sanfilippo disease type B

1 reference

12 December 2020

Identifiers

DOI

10.1007/8904_2014_350

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256447%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25256447%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference