(Q41826086)

12 October 2017

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

1 reference

12 October 2017

7

Michael H Gelb

1 reference

12 October 2017

Trisha A Duffey

1

1 reference

12 October 2017

Garland Bellamy

2

1 reference

12 October 2017

Susan Elliott

3

1 reference

12 October 2017

Angela C Fox

4

1 reference

12 October 2017

Michael Glass

5

1 reference

12 October 2017

Frantisek Turecek

6

1 reference

12 October 2017

C Ronald Scott

8

1 reference

12 October 2017

language of work or name

English

0 references

publication date

12 October 2010

1 reference

12 October 2017

1 reference

12 October 2017

56

1 reference

12 October 2017

12

1 reference

12 October 2017

1854-1861

1 reference

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

12 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442157

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442157

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442157

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442157

Newborn screening for Krabbe disease: the New York State model.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442157

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

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442157

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3442157

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

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20940330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20940330

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1373/CLINCHEM.2010.152009

1 reference

12 October 2017

1 reference

12 October 2017

PubMed publication ID

20940330

1 reference