(Q50712687)

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Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis.

scientific article published on 20 April 2017

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scholarly article

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Multiplex Tandem Mass Spectrometry Enzymatic Activity Assay for Newborn Screening of the Mucopolysaccharidoses and Type 2 Neuronal Ceroid Lipofuscinosis. (English)

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Michael H. Gelb

7

object named as

Michael H Gelb

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

author name string

Yang Liu

1

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Fan Yi

2

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Arun Babu Kumar

3

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Naveen Kumar Chennamaneni

4

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Xinying Hong

5

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

C Ronald Scott

6

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Frantisek Turecek

8

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

language of work or name

0 references

publication date

20 April 2017

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Clinical Chemistry

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

63

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

6

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

1118-1126

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

Pilot study of newborn screening for six lysosomal storage diseases 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=5545178

27 July 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

Enzyme replacement therapy for lysosomal storage diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

New substrates and enzyme assays for the detection of mucopolysaccharidosis III (Sanfilippo Syndrome) types A, B, C, and D by tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

Protonation sites and dissociation mechanisms of t-butylcarbamates in tandem mass spectrometric assays for newborn screening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

Comparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

Multiplex lysosomal enzyme activity assay on dried blood spots 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=5545178

27 July 2018

Determination of the substrate specificity of tripeptidyl-peptidase I using combinatorial peptide libraries and development of improved fluorogenic substrates

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 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=5545178

27 July 2018

Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis III B)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

Cloning and characterization of the human beta-glucuronidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Newborn screening for lysosomal storage diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Tandem mass spectrometry assays of palmitoyl protein thioesterase 1 and tripeptidyl peptidase activity in dried blood spots for the detection of neuronal ceroid lipofuscinoses in newborns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Treatment of lysosomal storage disorders: successes and challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Hematopoietic stem cell transplant for lysosomal storage diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Oral small molecule therapy for lysosomal storage diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Dried blood spot quality control materials for newborn screening to detect lysosomal storage disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

High-throughput assay of 9 lysosomal enzymes for newborn screening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Enhanced interpretation of newborn screening results without analyte cutoff values.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

The molecular basis of Sanfilippo syndrome type B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

14 August 2018

Neuronal ceroid lipofuscinoses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5545178

29 September 2018

Practical and reliable enzyme test for the detection of mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

1 reference

https://pubmed.ncbi.nlm.nih.gov/28428354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The application of multiplexed, multi-dimensional ultra-high-performance liquid chromatography/tandem mass spectrometry to the high-throughput screening of lysosomal storage disorders in newborn dried bloodspots

1 reference

https://pubmed.ncbi.nlm.nih.gov/28428354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/28428354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/28428354

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1373/CLINCHEM.2016.269167

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

1 reference

Europe PubMed Central

18 July 2018

http://europepmc.org/abstract/PMC/5545178

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