(Q84575770)

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Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients

scientific article published on 22 June 2010

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20638881%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

Pompe disease: dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20638881%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

author name string

Donna L Bernstein

1

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8 February 2020

Martin G Bialer

2

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8 February 2020

Lakshmi Mehta

3

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8 February 2020

Robert J Desnick

4

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8 February 2020

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22 June 2010

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8 February 2020

Molecular Genetics and Metabolism

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8 February 2020

101

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8 February 2020

2-3

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8 February 2020

130-133

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8 February 2020

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.2010.06.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Cardiac involvement in adults with Pompe disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

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.2010.06.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Pompe disease diagnosis and management guideline.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Treatment of gastroesophageal reflux with nissen fundoplication and gastrostomy tube insertion in infantile pompe's disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Enzyme replacement therapy in late-onset type II glycogenosis.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

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.2010.06.003

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.2010.06.003

7 January 2021

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

L-alanine supplementation in late infantile glycogen storage disease type II.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

New GAA mutations in Japanese patients with GSDII (Pompe disease)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Both type 1 and type 2a muscle fibers can respond to enzyme therapy in Pompe disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

Neural deficits contribute to respiratory insufficiency in Pompe disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.06.003

7 January 2021

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10.1016/J.YMGME.2010.06.003

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Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20638881%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20638881%20AND%20SRC:MED&resulttype=core&format=json

8 February 2020

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