(Q34306229)

English

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

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scholarly article

1 reference

Europe PubMed Central

1 August 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). (English)

1 reference

Europe PubMed Central

1 August 2017

mucopolysaccharidosis VI

1 reference

based on heuristic

inferred from title

author name string

Trisha A Duffey

1

1 reference

Europe PubMed Central

1 August 2017

Martin Sadilek

2

1 reference

Europe PubMed Central

1 August 2017

C Ronald Scott

3

1 reference

Europe PubMed Central

1 August 2017

Frantisek Turecek

4

1 reference

Europe PubMed Central

1 August 2017

Michael H Gelb

5

1 reference

Europe PubMed Central

1 August 2017

language of work or name

0 references

publication date

20 October 2010

1 reference

Europe PubMed Central

1 August 2017

Analytical Chemistry

1 reference

Europe PubMed Central

1 August 2017

82

1 reference

Europe PubMed Central

1 August 2017

22

1 reference

Europe PubMed Central

1 August 2017

9587-9591

1 reference

Europe PubMed Central

1 August 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=2980560

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980560

6 July 2018

Newborn screening for neuropathic lysosomal storage disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980560

6 July 2018

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=2980560

6 July 2018

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=2980560

6 July 2018

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=2980560

6 July 2018

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=2980560

6 July 2018

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=2980560

6 July 2018

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=2980560

6 July 2018

Diagnosis of Maroteaux-Lamy syndrome by the use of radiolabelled oligosaccharides as substrates for the determination of arylsulphatase B activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980560

6 July 2018

Phylogenetic conservation of arylsulfatases. cDNA cloning and expression of human arylsulfatase B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980560

6 July 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=2980560

28 October 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=2980560

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980560

28 October 2018

Enzyme replacement therapy in 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=2980560

28 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2980560

28 October 2018

Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An N-acetylgalactosamine-4-sulfatase mutation (delta G238) results in a severe Maroteaux-Lamy phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper

1 reference

https://pubmed.ncbi.nlm.nih.gov/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Maroteaux-Lamy disease (mucopolysaccharidosis VI), subtype A: deficiency of a N-acetylgalactosamine-4-sulfatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deficiency of chondroitin sulfate N-acetylgalactosamine 4-sulfate sulfatase in Maroteaux-Lamy syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromosomal localization of ARSB, the gene for human N-acetylgalactosamine-4-sulphatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/20961069

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1021/AC102090V

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

1 reference

Europe PubMed Central

1 August 2017

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