(Q37972590)

26 August 2017

title

Diagnosis of the mucopolysaccharidoses (English)

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26 August 2017

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Thomas J A Lehman

1

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26 August 2017

Nicole Miller

2

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26 August 2017

Becky Norquist

3

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26 August 2017

Lisa Underhill

4

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26 August 2017

Joan Keutzer

5

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26 August 2017

language of work or name

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1 December 2011

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26 August 2017

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26 August 2017

volume

50 Suppl 5

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26 August 2017

page(s)

v41-8

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The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations

26 August 2017

cites work

1 reference

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Mucopolysaccharidosis VI.

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

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Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

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Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

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

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Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutational analysis of 105 mucopolysaccharidosis type VI patients

21 January 2018

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Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients

21 January 2018

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Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

21 January 2018

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The clinical outcome of Hurler syndrome after stem cell transplantation.

21 January 2018

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Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

21 January 2018

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Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry

21 January 2018

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

21 January 2018

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

21 January 2018

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Newborn screening for lysosomal storage disorders

21 January 2018

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Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

21 January 2018

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Newborn screening for neuropathic lysosomal storage disorders.

21 January 2018

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

21 January 2018

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Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

21 January 2018

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Design and synthesis of substrates for newborn screening of Maroteaux-Lamy and Morquio A syndromes

21 January 2018

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

21 January 2018

1 reference

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Carpal tunnel syndrome in children

21 January 2018

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Surgical treatment of carpal tunnel syndrome and trigger digits in children with mucopolysaccharide storage disorders

21 January 2018

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Carpal tunnel syndrome in the mucopolysaccharidoses and related disorders

21 January 2018

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Ocular manifestations as key features for diagnosing mucopolysaccharidoses

21 January 2018

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Overview of the mucopolysaccharidoses

21 January 2018

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Musculoskeletal manifestations of mucopolysaccharidoses.

21 January 2018

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Orthopaedic aspects of mucopolysaccharidoses

21 January 2018

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Sanfilippo syndrome: a mini-review

21 January 2018

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Mucopolysaccharidoses and the eye.

21 January 2018

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Clinical and biochemical manifestations of hyaluronidase deficiency

21 January 2018

1 reference

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Grouped papules in Hurler-Scheie syndrome.

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FRHEUMATOLOGY%2FKER390

10.1093/RHEUMATOLOGY/KER390

21 January 2018

Identifiers

DOI

1 reference

26 August 2017

1 reference