Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease. (Q50241482)

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scientific article published on 12 September 2012

Language	Label	Description	Also known as
English	Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease.	scientific article published on 12 September 2012

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease. (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

1 reference

based on heuristic

inferred from title

Sanfilippo syndrome

1 reference

based on heuristic

inferred from title

author name string

J de Ruijter

1

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

L Ijlst

2

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

W Kulik

3

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

H van Lenthe

4

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

T Wagemans

5

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

N van Vlies

6

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

F A Wijburg

7

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

publication date

12 September 2012

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

Journal of Inherited Metabolic Disease

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Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

36

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Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

2

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

271-279

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

https://scigraph.springernature.com/pub.10.1007/s10545-012-9535-5

0 references

Genistein supplementation in patients affected by Sanfilippo disease.

1 reference

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21 January 2018

Serum MIP-1 alpha level: a biomarker for the follow-up of lentiviral therapy in mucopolysaccharidosis IIIB mice

1 reference

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21 January 2018

Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes.

1 reference

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21 January 2018

Lack of relationship between blood and urine levels of glycosaminoglycans and lysomal enzymes

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

1 reference

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21 January 2018

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene

1 reference

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Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).

1 reference

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The fate of injected mucopolysac-charides

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21 January 2018

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Prevalence of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Prevalence of lysosomal storage diseases in Portugal

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: An open-label, pilot study in 10 pediatric patients

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Gene expression-targeted isoflavone therapy

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

The first 5 years of clinical experience with laronidase enzyme replacement therapy for mucopolysaccharidosis I.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase).

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9535-5

21 January 2018

Incidence of mucopolysaccharidoses in Tunisia

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longitudinal observations of serum heparin cofactor II-thrombin complex in treated Mucopolysaccharidosis I and II patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dimethylmethylene blue-based spectrophotometry of glycosaminoglycans in untreated urine: a rapid screening procedure for mucopolysaccharidoses.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme replacement therapy for mucopolysaccharidosis VI: A phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, o

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cumulative incidence rates of the mucopolysaccharidoses in Germany

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

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Glycosaminoglycans in childhood urinary tract infections

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

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Treatment of mucopolysaccharidosis type II (Hunter syndrome) with idursulfase: the relevance of clinical trial end points

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A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)

1 reference

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12 December 2020

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inferred from PubMed ID database lookup

Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genistein in Sanfilippo disease: a randomized controlled crossover trial

1 reference

https://pubmed.ncbi.nlm.nih.gov/22968582

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inferred from PubMed ID database lookup

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome

1 reference

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12 December 2020

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Identifiers

10.1007/S10545-012-9535-5

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

http://europepmc.org/abstract/MED/22968582

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