(Q50241482)

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

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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

1 reference

Europe PubMed Central

PubMed publication ID

28 February 2018

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

36

1 reference

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

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

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

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

The fate of injected mucopolysac-charides

1 reference

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

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

based on heuristic

inferred from PubMed ID database lookup

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

based on heuristic

inferred from PubMed ID database lookup

Glycosaminoglycans in childhood urinary tract infections

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

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

12 December 2020

based on heuristic

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

12 December 2020

based on heuristic

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

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

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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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