(Q37049783)

English

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

scientific article published on March 2013

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

mass spectrometry

0 references

Michael H. Gelb

7

object named as

Michael H Gelb

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

author name string

C Ronald Scott

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Susan Elliott

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Norman Buroker

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Lauren I Thomas

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Joan Keutzer

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Michael Glass

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Frantisek Turecek

8

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

language of work or name

0 references

publication date

1 March 2013

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

The Journal of Pediatrics

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

163

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

498-503

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

Newborn screening for lysosomal storage diseases: an ethical and policy analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

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=3725184

29 September 2017

Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 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)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

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=3725184

29 September 2017

High incidence of later-onset fabry disease revealed by newborn screening

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

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=3725184

29 September 2017

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=3725184

29 September 2017

The frequency of lysosomal storage diseases in The Netherlands.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

29 September 2017

Prevalence 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=3725184

29 September 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=3725184

27 June 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=3725184

27 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

27 June 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=3725184

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

4 September 2018

Enzyme assay and clinical assessment in subjects with a Chinese hotspot late‐onset Fabry mutation (IVS4 + 919G→A)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725184

4 September 2018

Newborn screening for Fabry disease by measuring GLA 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=3725184

4 September 2018

Quantification of cellular acid sphingomyelinase and galactocerebroside beta-galactosidase activities by electrospray ionization mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/23465405

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/23465405

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/23465405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry

1 reference

https://pubmed.ncbi.nlm.nih.gov/23465405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23465405

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/23465405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up

1 reference

https://pubmed.ncbi.nlm.nih.gov/23465405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

1 reference

https://pubmed.ncbi.nlm.nih.gov/23465405

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/23465405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: enzymatic diagnosis in dried blood spots on filter paper

1 reference

https://pubmed.ncbi.nlm.nih.gov/23465405

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.JPEDS.2013.01.031

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

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