(Q38015977)

27 August 2017

Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature (English)

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27 August 2017

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3

Beth L Thurberg

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27 August 2017

Lisa D Hobson-Webb

1

1 reference

27 August 2017

Alan D Proia

2

1 reference

27 August 2017

Suhrad Banugaria

4

1 reference

27 August 2017

Sean N Prater

5

1 reference

27 August 2017

Priya S Kishnani

6

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27 August 2017

language of work or name

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18 May 2012

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Molecular Genetics and Metabolism

27 August 2017

1 reference

27 August 2017

106

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27 August 2017

4

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27 August 2017

462-469

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Pompe disease diagnosis and management guideline.

27 August 2017

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

The pattern of involvement of adult-onset acid maltase deficiency at autopsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Pompe disease in infants and children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Cardiac involvement in adults with Pompe disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Thrombotic complications of a basilar artery aneurysm in a young adult with Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Ptosis as a feature of late-onset glycogenosis type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Ptosis as a feature of late-onset glycogenosis type II

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Adult-onset acid maltase deficiency: A postmortem study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Acid maltase deficiency (type II glycogenosis). Morphological and biochemical study of a childhood phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Late-onset acid maltase deficiency associated with intracranial aneurysm

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

The "muscular variant" of Pompe disease: clinical, biochemical and histologic characteristics

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Fractures in children with Pompe disease: a potential long-term complication

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Disease severity in children and adults with Pompe disease related to age and disease duration.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Adult acid maltase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Expanding the phenotype of late-onset Pompe disease: tongue weakness: a new clinical observation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Neural deficits contribute to respiratory insufficiency in Pompe disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

Acute progression of neuromuscular findings in infantile Pompe disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2012.05.007

10.1016/J.YMGME.2012.05.007

7 January 2021

Identifiers

DOI

1 reference

27 August 2017

1 reference