(Q47904372)

6 February 2018

title

Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease (English)

1 reference

6 February 2018

7

Michael H Gelb

1 reference

6 February 2018

author name string

Hsuan-Chieh Liao

1

1 reference

6 February 2018

Min-Ju Chan

2

1 reference

6 February 2018

Chia-Feng Yang

3

1 reference

6 February 2018

Chuan-Chi Chiang

4

1 reference

6 February 2018

Dau-Ming Niu

5

1 reference

6 February 2018

Chun-Kai Huang

6

1 reference

6 February 2018

language of work or name

English

0 references

publication date

27 April 2017

1 reference

6 February 2018

published in

Clinical Chemistry

1 reference

6 February 2018

volume

63

1 reference

6 February 2018

issue

7

1 reference

6 February 2018

page(s)

1271-1277

1 reference

6 February 2018

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524447

Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524447

Tandem Mass Spectrometry Has a Larger Analytical Range than Fluorescence Assays of Lysosomal Enzymes: Application to Newborn Screening and Diagnosis of Mucopolysaccharidoses Types II, IVA, and VI.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524447

Identification of infants at risk for developing Fabry, Pompe, or mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524447

Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524447

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524447

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

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524447

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

5 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5524447

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

5 October 2018

1 reference

12 December 2020

Molecular genetic study of Pompe disease in Chinese patients in Taiwan

1 reference

12 December 2020

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

1 reference

12 December 2020

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry

1 reference

12 December 2020

10.1373/CLINCHEM.2016.269027

Identifiers

DOI

1 reference

6 February 2018

PMC publication ID

5524447

0 references

1 reference

6 February 2018