(Q85174985)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20934363%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

title

Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI (English)

1 reference

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15 February 2020

author name string

Christiane Auray-Blais

1 reference

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15 February 2020

Patrick Bhérer

1 reference

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15 February 2020

René Gagnon

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20934363%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Sarah P Young

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20934363%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Haoyue H Zhang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20934363%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Yan An

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20934363%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

Joe T R Clarke

1 reference

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15 February 2020

David S Millington

1 reference

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15 February 2020

publication date

17 September 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20934363%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

15 February 2020

published in

1 reference

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15 February 2020

volume

102

1 reference

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15 February 2020

issue

1 reference

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15 February 2020

page(s)

49-56

1 reference

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describes a project that uses

15 February 2020

liquid chromatography–mass spectrometry

1 reference

based on heuristic

inferred from title

liquid chromatography-tandem mass spectrometry

1 reference

based on heuristic

inferred from title

cites work

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.

1 reference

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Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004

7 January 2021

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MPS II in females: molecular basis of two different cases

7 January 2021

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

7 January 2021

1 reference

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Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

7 January 2021

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

7 January 2021

1 reference

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Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Determination of monosaccharides and disaccharides in mucopolysaccharidoses patients by electrospray ionisation mass spectrometry.

7 January 2021

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Newborn screening for lysosomal storage disorders: clinical evaluation of a two-tier strategy

7 January 2021

1 reference

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Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases

7 January 2021

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Mass spectrometry of oligosaccharides.

7 January 2021

1 reference

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Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution–electrospray ionization tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

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

7 January 2021

1 reference

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Rapid and effective screening for lysosomal storage disease: how close are we?

7 January 2021

1 reference

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Screening for mucopolysaccharide disorders with the Berry spot test

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

On-line separations combined with MS for analysis of glycosaminoglycans

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Development of a filter paper method potentially applicable to mass and high-risk urinary screenings for Fabry disease

7 January 2021

1 reference

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Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules

7 January 2021

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Gb(3)/creatinine biomarkers for Fabry disease: issues to consider.

7 January 2021

1 reference

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Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Glycosaminoglycan degradation fragments in mucopolysaccharidosis I.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Disease-specific markers for the mucopolysaccharidoses

7 January 2021

1 reference

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Enzyme replacement therapy from birth in a feline model of mucopolysaccharidosis type VI.

7 January 2021

1 reference

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Replacement therapy in Mucopolysaccharidosis type VI: advantages of early onset of therapy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Monitoring dose response of enzyme replacement therapy in feline mucopolysaccharidosis type VI by tandem mass spectrometry

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

Application of tandem mass spectrometry to biochemical genetics and newborn screening

7 January 2021

1 reference

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A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.09.003

10.1016/J.YMGME.2010.09.003

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20934363%20AND%20SRC:MED&resulttype=core&format=json

15 February 2020

1 reference

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