The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants (Q56523673)

30 June 2019

title

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants (English)

1 reference

30 June 2019

author

Amy C Yang

14

1 reference

30 June 2019

Chunli Yu

15

object named as

Chunli Yu

1 reference

30 June 2019

Melissa P Wasserstein

1

object named as

Melissa P Wasserstein

1 reference

30 June 2019

Robert J. Desnick

4

object named as

Robert J Desnick

1 reference

30 June 2019

author name string

Michele Caggana

2

1 reference

30 June 2019

Sean M Bailey

3

1 reference

30 June 2019

Lisa Edelmann

5

1 reference

30 June 2019

Lissette Estrella

6

1 reference

30 June 2019

Ian Holzman

7

1 reference

30 June 2019

Nicole R Kelly

8

1 reference

30 June 2019

Ruth Kornreich

9

1 reference

30 June 2019

S Gabriel Kupchik

10

1 reference

30 June 2019

Monica Martin

11

1 reference

30 June 2019

Suhas M Nafday

12

1 reference

30 June 2019

Randi Wasserman

13

1 reference

30 June 2019

Joseph J Orsini

16

1 reference

30 June 2019

language of work or name

English

0 references

publication date

10 August 2018

1 reference

30 June 2019

published in

Genetics in Medicine

1 reference

30 June 2019

volume

21

1 reference

30 June 2019

page(s)

631-640

1 reference

30 June 2019

issue

3

1 reference

30 June 2019

https://scigraph.springernature.com/pub.10.1038/s41436-018-0129-y

exact match

0 references

cites work

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Enzyme replacement and enhancement therapies for lysosomal diseases

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Detecting multiple lysosomal storage diseases by tandem mass spectrometry--a national newborn screening program in Taiwan.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Newborn screening for lysosomal storage disorders in hungary.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Parental permission for pilot newborn screening research: guidelines from the NBSTRN.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Successes of newborn screening programs

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Population-based newborn screening for genetic disorders when multiple mutation DNA testing is incorporated: a cystic fibrosis newborn screening model demonstrating increased sensitivity but more carrier detections.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

California's experience implementing a pilot newborn supplemental screening program using tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

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://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Informed Consent Should Be a Required Element for Newborn Screening, Even for Disorders with High Benefit-Risk Ratios

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Pilot programs in newborn screening.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Lysosomal storage disorder screening implementation: findings from the first six months of full population pilot testing in Missouri

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot study

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Fabry Disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Technical report: Ethical and policy issues in genetic testing and screening of children

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Enhanced interpretation of newborn screening results without analyte cutoff values.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Precision newborn screening for lysosomal disorders.

1 reference

https://api.crossref.org/works/10.1038%2FS41436-018-0129-Y

7 January 2021

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30093709

12 December 2020

inferred from PubMed ID database lookup

Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn Screening Program

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/30093709

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1038/S41436-018-0129-Y

1 reference

30 June 2019

PMCID

6369014

1 reference

30 June 2019

PubMed ID

30093709

1 reference

30 June 2019