(Q45972852)

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Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening.

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18 December 2017

http://europepmc.org/abstract/MED/23040796

Severely impaired health status at diagnosis of Pompe disease: a cross-sectional analysis to explore the potential utility of neonatal screening. (English)

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Europe PubMed Central

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18 December 2017

http://europepmc.org/abstract/MED/23040796

Martina C. Cornel

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Martina C Cornel

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18 December 2017

Arnold J J Reuser

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Arnold J J Reuser

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18 December 2017

http://europepmc.org/abstract/MED/23040796

Ans van der Ploeg

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Ans T van der Ploeg

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18 December 2017

http://europepmc.org/abstract/MED/23040796

Marloes L C Hagemans

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Marloes L C Hagemans

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18 December 2017

http://europepmc.org/abstract/MED/23040796

Stephanie S. Weinreich

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Stephanie S Weinreich

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18 December 2017

http://europepmc.org/abstract/MED/23040796

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Carla G van El

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18 December 2017

http://europepmc.org/abstract/MED/23040796

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Deniz Güngör

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18 December 2017

http://europepmc.org/abstract/MED/23040796

Juna M de Vries

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Juna M de Vries

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18 December 2017

http://europepmc.org/abstract/MED/23040796

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Tessel Rigter

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18 December 2017

http://europepmc.org/abstract/MED/23040796

Carin M van Gelder

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18 December 2017

http://europepmc.org/abstract/MED/23040796

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21 September 2012

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/23040796

Molecular Genetics and Metabolism

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Europe PubMed Central

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18 December 2017

http://europepmc.org/abstract/MED/23040796

107

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PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/23040796

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18 December 2017

http://europepmc.org/abstract/MED/23040796

448-455

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PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/23040796

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Pompe's disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

The natural course of non-classic Pompe's disease; a review of 225 published cases

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

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/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat?

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Newborn screening of lysosomal storage disorders

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Hearing loss in Pompe disease revisited: results from a study of 24 children

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Late-onset Pompe disease primarily affects quality of life in physical health domains.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Left ventricular mass in 169 healthy children and young adults assessed by three-dimensional echocardiography

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Hand-held myometry: reference values

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Normative values for isometric muscle force measurements obtained with hand-held dynamometers

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Reference values of maximum isometric muscle force obtained in 270 children aged 4–16 years by hand-held dynamometry

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Standardisation of spirometry

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Lung volumes and forced ventilatory flows. Report Working Party Standardization of Lung Function Tests, European Community for Steel and Coal. Official Statement of the European Respiratory Society

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Impact of late-onset Pompe disease on participation in daily life activities: evaluation of the Rotterdam Handicap Scale

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.09.017

7 January 2021

Identifiers

10.1016/J.YMGME.2012.09.017

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/23040796

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/23040796

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