Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy (Q57225633)

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scientific article published on 22 September 2011

Infantile Pompe Disease: Clinical and Genetic Characteristics With an Experience of Enzyme Replacement Therapy

Language	Label	Description	Also known as
English	Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy	scientific article published on 22 September 2011	Infantile Pompe Disease: Clinical and Genetic Characteristics With an Experience of Enzyme Replacement Therapy

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scholarly article

1 reference

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13 February 2020

Infantile Pompe disease: clinical and genetic characteristics with an experience of enzyme replacement therapy (English)

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13 February 2020

enzyme replacement therapy

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9

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13 February 2020

author name string

Anna Cho

1

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13 February 2020

Su Jin Kim

2

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13 February 2020

Byung Chan Lim

3

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13 February 2020

Hee Hwang

4

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13 February 2020

June Dong Park

5

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13 February 2020

Gi Beom Kim

6

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13 February 2020

Dong-Kyu Jin

7

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13 February 2020

Jeehun Lee

8

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13 February 2020

Ki Joong Kim

10

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13 February 2020

Yong Seung Hwang

11

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13 February 2020

Jong-Hee Chae

12

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13 February 2020

language of work or name

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publication date

22 September 2011

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13 February 2020

Journal of Child Neurology

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13 February 2020

27

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13 February 2020

319-324

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13 February 2020

3

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13 February 2020

Pompe's disease

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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/10.1177%2F0883073811420295

21 January 2018

Pompe disease in infants and children

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

Two new missense mutations of GAA in late onset glycogen storage disease type II.

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

1 reference

https://api.crossref.org/works/10.1177%2F0883073811420295

21 January 2018

Identifiers

10.1177/0883073811420295

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21940687%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21940687%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

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