Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry (Q40378119)

20 September 2017

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

1 reference

20 September 2017

11

Michael H Gelb

1 reference

20 September 2017

Susan Elliott

1

1 reference

20 September 2017

Norman Buroker

2

1 reference

20 September 2017

Jason J Cournoyer

3

1 reference

20 September 2017

Anna M Potier

4

1 reference

20 September 2017

Joseph D Trometer

5

1 reference

20 September 2017

Carole Elbin

6

1 reference

20 September 2017

Mack J Schermer

7

1 reference

20 September 2017

Jaana Kantola

8

1 reference

20 September 2017

Aaron Boyce

9

1 reference

20 September 2017

Frantisek Turecek

10

1 reference

20 September 2017

C Ronald Scott

12

1 reference

20 September 2017

20 May 2016

1 reference

Molecular Genetics and Metabolism

20 September 2017

1 reference

20 September 2017

118

1 reference

20 September 2017

304-309

1 reference

20 September 2017

4

1 reference

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.

20 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Newborn screening for lysosomal storage diseases

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Simplified newborn screening protocol for lysosomal storage disorders

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

ProPhylER: a curated online resource for protein function and structure based on evolutionary constraint analyses

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Targeted capture and massively parallel sequencing of 12 human exomes

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Mutations in the gene encoding cytosolic beta-glucosidase in Gaucher disease

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

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

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Newborn screening for Krabbe disease in New York State: the first eight years' experience.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

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

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5318163

Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

20 August 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.015

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.015

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.015

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.015

Heterogeneity of mutations in the acid beta-glucosidase gene of Gaucher disease patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2016.05.015

Hurler-like phenotype: enzymatic diagnosis in dried blood spots on filter paper

7 January 2021

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27238910

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27238910

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2016.05.015

1 reference

20 September 2017

1 reference

20 September 2017

1 reference