Title |
The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients
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Published in |
Acta Neuropathologica Communications, January 2014
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DOI | 10.1186/2051-5960-2-2 |
Pubmed ID | |
Authors |
Erin J Feeney, Stephanie Austin, Yin-Hsiu Chien, Hanna Mandel, Benedikt Schoser, Sean Prater, Wuh-Liang Hwu, Evelyn Ralston, Priya S Kishnani, Nina Raben |
Abstract |
Pompe disease, an inherited deficiency of lysosomal acid alpha-glucosidase (GAA), is a metabolic myopathy with heterogeneous clinical presentations. Late-onset Pompe disease (LOPD) is a debilitating progressive muscle disorder that can occur anytime from early childhood to late adulthood. Enzyme replacement therapy (ERT) with recombinant human GAA is currently available for Pompe patients. Although ERT shows some benefits, the reversal of skeletal muscle pathology - lysosomal glycogen accumulation and autophagic buildup - remains a challenge. In this study, we examined the clinical status and muscle pathology of 22 LOPD patients and one atypical infantile patient on ERT to understand the reasons for muscle resistance to ERT. |
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Canada | 1 | 100% |
Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 1% |
Unknown | 67 | 99% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 14 | 21% |
Student > Ph. D. Student | 14 | 21% |
Student > Bachelor | 10 | 15% |
Student > Master | 7 | 10% |
Professor | 4 | 6% |
Other | 8 | 12% |
Unknown | 11 | 16% |
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Biochemistry, Genetics and Molecular Biology | 12 | 18% |
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Chemistry | 3 | 4% |
Other | 6 | 9% |
Unknown | 13 | 19% |