Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III (Q85237583)

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scientific article published on 28 September 2012

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English	Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III	scientific article published on 28 September 2012

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15 February 2020

Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III (English)

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15 February 2020

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author name string

Jessica de Ruijter

1

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Minke H de Ru

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Tom Wagemans

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Lodewijk Ijlst

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Paul J Orchard

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G Bradley Schaefer

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Frits A Wijburg

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Naomi van Vlies

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publication date

28 September 2012

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Molecular Genetics and Metabolism

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705-710

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4

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15 February 2020

Overview of the mucopolysaccharidoses

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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: 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

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

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Transplant outcomes in mucopolysaccharidoses

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Therapy for the mucopolysaccharidoses

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

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

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

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Enzyme replacement therapy for mucopolysaccharidosis VI from 8 weeks of age--a sibling control study

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Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3-year follow-up

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Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II.

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Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

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Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations

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Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

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Newborn screening for lysosomal storage disorders

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Screening patients referred to a metabolic clinic for lysosomal storage disorders.

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Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

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Newborn screening of lysosomal storage disorders

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Direct profiling of multiple enzyme activities in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry: application to clinical enzymology

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Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening

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Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

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Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders

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7 January 2021

Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I

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7 January 2021

Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry.

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7 January 2021

Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry

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7 January 2021

Disaccharide structure code for the easy representation of constituent oligosaccharides from glycosaminoglycans

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Biomarker analysis of Morquio syndrome: identification of disease state and drug responsive markers

1 reference

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7 January 2021

Validation of keratan sulfate level in mucopolysaccharidosis type IVA by liquid chromatography-tandem mass spectrometry

1 reference

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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

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

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Identifiers

10.1016/J.YMGME.2012.09.024

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15 February 2020

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15 February 2020

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