Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform (Q30572067)

21 August 2017

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform (English)

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21 August 2017

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Ramakrishna S Sista

1

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21 August 2017

Tong Wang

2

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21 August 2017

Ning Wu

3

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21 August 2017

Carrie Graham

4

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21 August 2017

Allen Eckhardt

5

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21 August 2017

Theodore Winger

6

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21 August 2017

Vijay Srinivasan

7

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21 August 2017

Deeksha Bali

8

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21 August 2017

David S Millington

9

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21 August 2017

Vamsee K Pamula

10

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21 August 2017

7 May 2013

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21 August 2017

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21 August 2017

424

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21 August 2017

12-18

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describes a project that uses

21 August 2017

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Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Simplified newborn screening protocol for lysosomal storage disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Newborn screening for neuropathic lysosomal storage disorders.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Newborn screening of lysosomal storage disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Digital microfluidics: a future technology in the newborn screening laboratory?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Current enzyme replacement therapy for the treatment of lysosomal storage diseases.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Lysosomal storage disorders in the newborn

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Rapid, single-step assay for Hunter syndrome in dried blood spots using digital microfluidics

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3926752

Newborn bloodspot screening for lysosomal storage disorders

26 November 2018

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12 December 2020

Newborn screening for lysosomal storage disorders

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12 December 2020

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

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12 December 2020

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

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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

10.1016/J.CCA.2013.05.001

Identifiers

DOI

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21 August 2017

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21 August 2017

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