(Q36233470)

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Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).

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Europe PubMed Central

PMC publication ID

12 August 2017

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome). (English)

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Europe PubMed Central

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12 August 2017

mucopolysaccharidosis II

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Michael H. Gelb

6

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Michael H Gelb

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Europe PubMed Central

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12 August 2017

author name string

Brian J Wolfe

1

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Europe PubMed Central

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12 August 2017

Sophie Blanchard

2

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Europe PubMed Central

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12 August 2017

Martin Sadilek

3

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Europe PubMed Central

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12 August 2017

C Ronald Scott

4

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12 August 2017

Frantisek Turecek

5

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12 August 2017

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publication date

30 December 2010

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12 August 2017

Analytical Chemistry

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12 August 2017

83

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12 August 2017

3

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Europe PubMed Central

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12 August 2017

1152-1156

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Europe PubMed Central

PMC publication ID

12 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

Short synthetic sequence for 2-sulfation of alpha-L-iduronate glycosides

1 reference

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1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

Mucopolysaccharidosis type II: an update on mutation spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for mucopolysaccharidosis II (Hunter disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

Expanded newborn screening of inherited metabolic disorders by tandem mass spectrometry: clinical and laboratory aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

Sulfatases: structure, mechanism, biological activity, inhibition, and synthetic utility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

1 October 2017

A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

29 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

22 September 2018

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

22 September 2018

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442111

22 September 2018

Tandem mass spectrometry for the direct assay of enzymes in dried blood spots: application to newborn screening for Krabbe disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/21192662

12 December 2020

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10.1021/AC102777S

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

12 August 2017

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