(Q37976643)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Alexandra A Beckemeyer

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Priya S Kishnani

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

publication date

17 January 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

20 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

160C

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

69-79

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Physical therapy management of Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Role of physical activity and exercise training in neuromuscular diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Serial casting for the management of ankle contracture in Duchenne muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

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/10.1002%2FAJMG.C.31321

Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Oropharyngeal dysphagia in infants and children with infantile Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Pompe disease in infants and children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Pompe disease diagnosis and management guideline.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Serial casting of the ankles in Duchenne muscular dystrophy: can it be an alternative to surgery?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

The prevalence and impact of scoliosis in Pompe disease: lessons learned from the Pompe Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Fiber types in mammalian skeletal muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Modification of the natural history of adult-onset acid maltase deficiency by nutrition and exercise therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

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/10.1002%2FAJMG.C.31321

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Clinical and histologic ocular findings in pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

Muscle MRI in adult-onset acid maltase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31321

21 January 2018

Identifiers

DOI

10.1002/AJMG.C.31321

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22252989%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference