Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure (Q36048779)

11 August 2017

Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure (English)

1 reference

11 August 2017

phenotypic heterogeneity

1 reference

Lorne A Clarke

0 references

Jiri Zeman

0 references

Anna Tylki-Szymanska

1 reference

11 August 2017

Carla E Hollak

1 reference

11 August 2017

Frits A Wijburg

1 reference

11 August 2017

Gregory M Pastores

1 reference

11 August 2017

Minke H de Ru

1 reference

11 August 2017

Quirine Ga Teunissen

1 reference

11 August 2017

Johanna H van der Lee

1 reference

11 August 2017

Michael Beck

1 reference

11 August 2017

Olaf A Bodamer

1 reference

11 August 2017

Shuan-Pei Lin

1 reference

11 August 2017

Maria-Verónica Muñoz Rojas

1 reference

11 August 2017

Julian A Raiman

1 reference

11 August 2017

Maurizio Scarpa

1 reference

11 August 2017

Eileen P Treacy

1 reference

11 August 2017

J Edmond Wraith

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11 August 2017

23 April 2012

1 reference

Orphanet Journal of Rare Diseases

11 August 2017

1 reference

11 August 2017

1 reference

11 August 2017

1 reference

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Mucopolysaccharidosis I: management and treatment guidelines

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Incidence and prevalence of mucopolysaccharidosis type 1 in the Irish republic

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

The clinical outcome of Hurler syndrome after stem cell transplantation.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Development and reliability of a system to classify gross motor function in children with cerebral palsy

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Risk factor analysis of outcomes after unrelated cord blood transplantation in patients with hurler syndrome

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

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

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Enzyme-replacement therapy in mucopolysaccharidosis I.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I.

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Heparin cofactor II–thrombin complex: A biomarker of MPS disease

23 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3379958

Tandem mass spectrometric analysis of dried blood spots for screening of mucopolysaccharidosis I in newborns

21 October 2018

1 reference

12 December 2020

Newborn screening for lysosomal storage disorders

1 reference

12 December 2020

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I

1 reference

12 December 2020

Use of GRADE grid to reach decisions on clinical practice guidelines when consensus is elusive

1 reference

12 December 2020

Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

1 reference

12 December 2020

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-22

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

22524701

1 reference