(Q42726428)

5 November 2017

Newborn screening for Pompe disease in Japan (English)

1 reference

5 November 2017

Eri Oda

1

1 reference

5 November 2017

Toju Tanaka

2

1 reference

5 November 2017

Ohsuke Migita

3

1 reference

5 November 2017

Motomichi Kosuga

4

1 reference

5 November 2017

Masaru Fukushi

5

1 reference

5 November 2017

Toshika Okumiya

6

1 reference

5 November 2017

Makiko Osawa

7

1 reference

5 November 2017

Torayuki Okuyama

8

1 reference

5 November 2017

10 September 2011

1 reference

Molecular Genetics and Metabolism

5 November 2017

1 reference

5 November 2017

104

1 reference

5 November 2017

4

1 reference

5 November 2017

560-565

1 reference

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

5 November 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

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.2011.09.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

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.2011.09.002

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.2011.09.002

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

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.2011.09.002

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.2011.09.002

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.2011.09.002

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.09.002

10.1016/J.YMGME.2011.09.002

7 January 2021

Identifiers

DOI

1 reference

5 November 2017

1 reference