(Q37972589)

26 August 2017

title

Overview of the mucopolysaccharidoses (English)

1 reference

26 August 2017

Joseph Muenzer

1

1 reference

26 August 2017

publication date

1 December 2011

1 reference

26 August 2017

1 reference

26 August 2017

volume

50 Suppl 5

1 reference

26 August 2017

page(s)

v4-12

1 reference

Mucopolysaccharidosis type II in females: case report and review of literature.

26 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

MPS II in females: molecular basis of two different cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Effects of enzyme replacement therapy on growth in patients with mucopolysaccharidosis type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

The frequency of lysosomal storage diseases in The Netherlands.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Prevalence of lysosomal storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Incidence of the mucopolysaccharidoses in Northern Ireland

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Incidence of inborn errors of metabolism in British Columbia, 1969-1996.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Mucopolysaccharidosis I: management and treatment guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Mucopolysaccharidoses and the eye.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Otolaryngologic manifestations of the mucopolysaccharidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Pebbling of the skin: a marker of Hunter's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

The mucopolysaccharidoses: a clinical review and guide to management

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Mucopolysaccharidosis type IVA (Morquio syndrome): a clinical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Mucopolysaccharidosis VI.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Biochemical Discrimination of Hurler and Scheie Syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Molecular genetics of mucopolysaccharidosis type I: diagnostic, clinical, and biological implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Diagnosis of mucopolysaccharidoses: how to avoid false positives and false negatives.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

46 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Lysosomal storage disorders: molecular basis and laboratory testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Bone marrow transplantation for Maroteaux-Lamy syndrome (MPS VI): long-term follow-up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Hematopoietic cell transplantation for mucopolysaccharidosis IIB (Hunter syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Transplant outcomes in mucopolysaccharidoses

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

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).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Idursulfase treatment of Hunter syndrome in children younger than 6 years: results from the Hunter Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: A perspective from the Hunter Outcome Survey (HOS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER394

10.1093/RHEUMATOLOGY/KER394

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference