{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:22:55Z","timestamp":1790677375067,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2012,10,11]],"date-time":"2012-10-11T00:00:00Z","timestamp":1349913600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease is a lysosomal storage disorder caused by acid \u03b1\u2010glucosidase deficiency and characterized by progressive muscle weakness. Enzyme replacement therapy (ERT) has ameliorated patients\u2019 perspectives, but reversal of skeletal muscle pathology remains a challenge. We studied pretreatment biopsies of 22 patients with different phenotypes to investigate to what extent fiber\u2010type distribution and fiber\u2010type\u2010specific damage contribute to clinical diversity. Pompe patients have the same fiber\u2010type distribution as healthy persons, but among nonclassic patients with the same <jats:italic>GAA<\/jats:italic> mutation (c.\u201032\u201013T&gt;G), those with early onset of symptoms tend to have more type 2 muscle fibers than those with late\u2010onset disease. Further, it seemed that the older, more severely affected classic infantile patients and the wheelchair\u2010bound and ventilated nonclassic patients had a greater proportion of type 2x muscle fibers. However, as in other diseases, this may be caused by physical inactivity of those patients.<\/jats:p>","DOI":"10.1007\/s10545-012-9541-7","type":"journal-article","created":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T19:16:47Z","timestamp":1349896607000},"page":"787-794","source":"Crossref","is-referenced-by-count":20,"title":["Muscle fiber\u2010type distribution, fiber\u2010type\u2010specific damage, and the Pompe disease phenotype"],"prefix":"10.1002","volume":"36","author":[{"given":"L. E. M.","family":"den van Berg","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Metabolic Diseases and Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center Rotterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. R.","family":"Drost","sequence":"additional","affiliation":[{"name":"Department of Movement Sciences, School for Nutrition, Toxicology and Metabolism Maastricht University Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Schaart","sequence":"additional","affiliation":[{"name":"Department of Movement Sciences, School for Nutrition, Toxicology and Metabolism Maastricht University Maastricht The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"de Laat","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Center for Lysosomal and Metabolic Diseases Erasmus MC University Medical Center PO Box 2040 Rotterdam 3000 CA The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. 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