Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature-Reference-Cited by-同舟云学术

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Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Published:2012-08 Issue:4 Volume:106 Page:462-469
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Hobson-Webb Lisa D.,Proia Alan D.,Thurberg Beth L.,Banugaria Suhrad,Prater Sean N.,Kishnani Priya S.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference37 articles.

1. Glycogen storage disease type II: acid a-glucosidase (acid maltase) deficiency;Hirschhorn,2011

2. Pompe disease diagnosis and management guideline;Kishnani;Genet. Med.,2006

3. Clinical variability in adult-onset acid maltase deficiency: report of affected sibs and review of the literature;Felice;Medicine (Baltimore),1995

4. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients;Hagemans;Brain,2005

5. Junenile and adult-onset acid maltase deficiency in France—genotype–phenotype correlation;Laforet;Neurology,2000

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1. Intracranial vasculopathy: an important organ damage in young adult patients with late-onset Pompe disease;Orphanet Journal of Rare Diseases;2024-07-15

2. GAA deficiency disrupts distal airway cells in Pompe disease;American Journal of Physiology-Lung Cellular and Molecular Physiology;2023-09-01

3. Screening data from 19 patients with late‐onset Pompe disease for a phase I clinical trial of AAV8 vector‐mediated gene therapy;JIMD Reports;2023-08-17

4. Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study;Orphanet Journal of Rare Diseases;2023-05-08

5. Gut dysmotility in children with neurological impairment: the nutritional management;Frontiers in Neurology;2023-05-05

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