(Q62723342)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program (English)

1 reference

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16 January 2020

1 reference

2

1 reference

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16 January 2020

Ni-Chung Lee

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Wuh-liang Hwu

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

4

Joan Keutzer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

author name string

Paul Labrousse

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Thomas Scholl

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Robert J Pomponio

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

Viatcheslav R Akmaev

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

publication date

28 December 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

16 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

volume

99

1 reference

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16 January 2020

issue

4

1 reference

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16 January 2020

page(s)

379-383

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

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

16 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

Point mutation in Pompe disease in Chinese

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.12.014

10.1016/J.YMGME.2009.12.014

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20080426%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference