{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:23:13Z","timestamp":1790677393907,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,11,26]],"date-time":"2019-11-26T00:00:00Z","timestamp":1574726400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Whole\u2010body magnetic resonance imaging (WBMRI) has clinical utility in measuring the amount of fatty infiltration in late\u2010onset Pompe disease (LOPD). Muscle strength and function testing also provide valuable insight to the progression of myopathy seen in these patients. The main purpose of this study was to determine how closely muscle strength and functional testing correlate to the amount of fatty infiltration seen on WBMRI. LOPD patients were followed longitudinally and WBMRI, muscle strength testing using the modified Medical Research Council (mMRC) scale, muscle function testing using the Gait, Stairs, Gowers, Chair (GSGC) score, and labs including urinary glucose tetrasaccharide (Glc4) were performed at each visit. The amount of fat seen on WBMRI was quantified using proton density fat fraction (PDFF) and correlated to appropriate muscle strength and functional tests. Nineteen patients with LOPD aged 10 to 67\u2009years were followed for a 1 to 2 year duration. There was a small increase of 1.26% (\u00b12.57%) in overall PDFF per year in patients on ERT. Muscle strength (mMRC) and functional testing (GSGC) correlated highly with PDFF (<jats:italic>r<\/jats:italic>\u2009=\u2009\u2212.7596,<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.0001 and<jats:italic>r<\/jats:italic>\u2009=\u2009.8267,<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.0001, respectively). Time to carry out individual tasks of the GSGC also correlated highly with PDFF of the muscles involved. Glc4 levels were normal on most visits (27\/39) despite varying severity of muscle weakness in patients. Muscle strength and GSGC scores correlate highly with PDFF values from WBMRI. They may be used in assessing severity of muscle disease and to follow LOPD patients over time.<\/jats:p>","DOI":"10.1002\/jimd.12190","type":"journal-article","created":{"date-parts":[[2019,11,11]],"date-time":"2019-11-11T18:52:25Z","timestamp":1573498345000},"page":"549-557","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Whole\u2010body magnetic resonance imaging in late\u2010onset Pompe disease: Clinical utility and correlation with functional measures"],"prefix":"10.1002","volume":"43","author":[{"given":"Aleena A.","family":"Khan","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy","family":"Boggs","sequence":"additional","affiliation":[{"name":"Division of Physical Therapy, Department of Community and Family Medicine Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Bowling","sequence":"additional","affiliation":[{"name":"Multi\u2010Dimensional Image Processing Laboratory, Department of Radiology Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Austin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihaela","family":"Stefanescu","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Case","sequence":"additional","affiliation":[{"name":"Division of Physical Therapy, Department of Community and Family Medicine Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University School of Medicine Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,26]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.6749"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.3389\/fnagi.2014.00177"},{"issue":"10","key":"e_1_2_11_4_1","doi-asserted-by":"crossref","first-page":"2437","DOI":"10.1002\/ajmg.a.36110","article-title":"Timing of diagnosis of patients with pompe disease: data from the pompe registry","volume":"161","author":"Kishnani PS","year":"2013","journal-title":"Am J Med Genet Part 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