(Q39663459)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253010%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Toward deconstructing the phenotype of late-onset Pompe disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253010%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253010%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Stephan Wenninger

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253010%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Angela Schüller

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253010%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Nicola Strigl-Pill

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253010%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:22253010%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:22253010%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:22253010%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

80-88

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22253010%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:22253010%20AND%20SRC:MED&resulttype=core&format=json

Dietary treatment in late-onset acid maltase deficiency

20 January 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Prognostic factors in ALS: A critical review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Neural deficits contribute to respiratory insufficiency in Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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.31322

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Late-onset Pompe disease primarily affects quality of life in physical health domains.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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.31322

Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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.31322

Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Hearing loss in infantile Pompe's disease and determination of underlying pathology in the knockout mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Aneurysms and vacuolar degeneration of cerebral arteries in late-onset acid maltase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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/10.1002%2FAJMG.C.31322

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Acid maltase deficiency in non-identical adult twins. A morphological and biochemical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Intractable fever and cortical neuronal glycogen storage in glycogenosis type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Late-onset acid maltase deficiency associated with intracranial aneurysm

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Pompe disease: a neuromuscular disease with respiratory muscle involvement

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Respiratory failure in Pompe disease: treatment with noninvasive ventilation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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.31322

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder--murine Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Changes in nutritional status and body composition during enzyme replacement therapy in adult-onset type II glycogenosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Enzyme replacement therapy in late-onset type II glycogenosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Spontaneous isolated convexity subarachnoid hemorrhage: presentation, radiological findings, differential diagnosis, and clinical course

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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.31322

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Therapeutic approaches in glycogen storage disease type II/Pompe Disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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.31322

Benign course of glycogen storage disease type IIb in two brothers: nature or nurture?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Cardiac involvement in adults with Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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.31322

Hearing loss in Pompe disease revisited: results from a study of 24 children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Rate of disease progression during long-term follow-up of patients with late-onset Pompe disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

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.31322

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/10.1002%2FAJMG.C.31322

Rapid progressive course of later-onset Pompe disease in Chinese patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Clinical and histologic ocular findings in pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322

Pompe disease: Design, methodology, and early findings from the Pompe Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.C.31322