(Q57225633)

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

13 February 2020

title

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

1 reference

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

enzyme replacement therapy

13 February 2020

main subject

0 references

author

Chang-Seok Ki

9

1 reference

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

13 February 2020

author name string

Anna Cho

1

1 reference

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

13 February 2020

Su Jin Kim

2

1 reference

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

13 February 2020

Byung Chan Lim

3

1 reference

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

13 February 2020

Hee Hwang

4

1 reference

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

13 February 2020

June Dong Park

5

1 reference

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

13 February 2020

Gi Beom Kim

6

1 reference

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

13 February 2020

Dong-Kyu Jin

7

1 reference

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

13 February 2020

Jeehun Lee

8

1 reference

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

13 February 2020

Ki Joong Kim

10

1 reference

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

13 February 2020

Yong Seung Hwang

11

1 reference

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

13 February 2020

Jong-Hee Chae

12

1 reference

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

13 February 2020

language of work or name

English

0 references

publication date

22 September 2011

1 reference

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

Journal of Child Neurology

13 February 2020

published in

1 reference

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

13 February 2020

volume

27

1 reference

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

13 February 2020

issue

3

1 reference

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

13 February 2020

page(s)

319-324

1 reference

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

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

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

21 January 2018

1 reference

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

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

21 January 2018

1 reference

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

Pompe disease in infants and children

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Electrocardiographic response to enzyme replacement therapy for Pompe disease.

21 January 2018

1 reference

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

21 January 2018

Identifiers

DOI

10.1177/0883073811420295

1 reference

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