Public support for neonatal screening for Pompe disease, a broad-phenotype condition (Q35956846)

11 August 2017

Public support for neonatal screening for Pompe disease, a broad-phenotype condition (English)

1 reference

11 August 2017

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6

Ans T van der Ploeg

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11 August 2017

7

Arnold J J Reuser

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11 August 2017

Stephanie Shifra Weinreich

1

1 reference

11 August 2017

Tessel Rigter

2

1 reference

11 August 2017

Carla Geertruida van El

3

1 reference

11 August 2017

Wybo Jan Dondorp

4

1 reference

11 August 2017

Pieter Johannes Kostense

5

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11 August 2017

Martina Cornelia Cornel

8

1 reference

11 August 2017

Marloes Louise Catharina Hagemans

9

1 reference

11 August 2017

14 March 2012

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Orphanet Journal of Rare Diseases

11 August 2017

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11 August 2017

7

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11 August 2017

15

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Patients-in-waiting: Living between sickness and health in the genomics era.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

An Overview of Newborn Screening

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Weighing the evidence for newborn screening for early-infantile Krabbe disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Newborn screening of lysosomal storage disorders

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

A randomized study of alglucosidase alfa in late-onset Pompe's disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Neonatal screening for treatable and untreatable disorders: prospective parents' opinions.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Information and informed consent for neonatal screening: opinions and preferences of parents

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Application of population screening principles to genetic screening for adult-onset conditions

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

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

27 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-15

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-15

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-15

Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-15

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-7-15

Diagnostic criteria for late-onset (childhood and adult) Pompe disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Waiving informed consent in newborn screening research: balancing social value and respect

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Newborn screening: the spigot is open and threatens to become a flood

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3351372

Expanded newborn screening for biochemical disorders: the effect of a false-positive result

24 September 2018

1 reference

12 December 2020

Parental Opinions about the Expansion of the Neonatal Screening Programme

1 reference

12 December 2020

Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II

1 reference

12 December 2020

Rapid and effective screening for lysosomal storage disease: how close are we?

1 reference

12 December 2020

Parents' interest in predictive genetic testing for their children when a disease has no treatment

1 reference

12 December 2020

"I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients

1 reference

12 December 2020

Screening for lysosomal storage disorders--a clinical perspective

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-7-15

1 reference

Dimensions Publication ID

11 August 2017

0 references

1 reference

11 August 2017

PubMed publication ID

22413814

1 reference