(Q45226102)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

title

Algorithm for Pompe disease newborn screening: results from the Taiwan screening program (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Ni-Chung Lee

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

Yin-Hsiu Chien

series ordinal

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1

Shu-Chuan Chiang

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

author name string

Li-Wen Hsu

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

publication date

24 April 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

1 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

volume

106

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

page(s)

281-286

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

1 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

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.2012.04.013

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.2012.04.013

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.2012.04.013

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.2012.04.013

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

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.2012.04.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

High-throughput multiplexed T-cell-receptor excision circle quantitative PCR assay with internal controls for detection of severe combined immunodeficiency in population-based newborn screening.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

Immunochemistry of lysosomal storage disorders.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.04.013

10.1016/J.YMGME.2012.04.013

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22578805%20AND%20SRC:MED&resulttype=core&format=json

1 February 2020

1 reference