(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

4

1 reference

20 September 2017

304-309

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