{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,12]],"date-time":"2026-06-12T15:11:04Z","timestamp":1781277064862,"version":"3.54.1"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2018,3,9]],"date-time":"2018-03-09T00:00:00Z","timestamp":1520553600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100013995","name":"Sanofi Genzyme","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100013995","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genomics"],"published-print":{"date-parts":[[2018,12]]},"DOI":"10.1186\/s40246-018-0145-7","type":"journal-article","created":{"date-parts":[[2018,3,9]],"date-time":"2018-03-09T07:52:53Z","timestamp":1520581973000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["2-deoxy-2-[18]fluoro-D-glucose PET\/CT (18FDG PET\/CT) may not be a viable biomarker in Pompe disease"],"prefix":"10.1186","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0654-5066","authenticated-orcid":false,"given":"U.","family":"Pl\u00f6ckinger","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Prasad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Ziagaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Tiling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Poellinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2018,3,9]]},"reference":[{"key":"145_CR1","doi-asserted-by":"publisher","first-page":"1467","DOI":"10.1007\/s00115-013-3947-9","volume":"84","author":"A Schuller","year":"2013","unstructured":"Schuller A, Kornblum C, Deschauer M, Vorgerd M, Schrank B, Mengel E, et al. Diagnosis and therapy of late onset Pompe disease. Nervenarzt. 2013;84:1467\u201372.","journal-title":"Nervenarzt"},{"key":"145_CR2","first-page":"506","volume":"32","author":"JW Teener","year":"2012","unstructured":"Teener JW. Late-onset Pompe\u2019s disease. Semin Neurol. 2012;32:506\u201311.","journal-title":"Semin Neurol"},{"key":"145_CR3","doi-asserted-by":"publisher","first-page":"837","DOI":"10.1007\/s10545-012-9451-8","volume":"35","author":"C Regnery","year":"2012","unstructured":"Regnery C, Kornblum C, Hanisch F, Vielhaber S, Strigl-Pill N, Grunert B, et al. 36 months observational clinical study of 38 adult Pompe disease patients under alglucosidase alfa enzyme replacement therapy. J Inherit Metab Dis. 2012;35:837\u201345.","journal-title":"J Inherit Metab Dis"},{"key":"145_CR4","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/s10545-011-9388-3","volume":"35","author":"CI van Capelle","year":"2012","unstructured":"van Capelle CI, van der Beek NA, de Vries JM, van Doorn PA, Duivenvoorden HJ, Leshner RT, et al. The quick motor function test: a new tool to rate clinical severity and motor function in Pompe patients. J Inherit Metab Dis. 2012;35:317\u201323.","journal-title":"J Inherit Metab Dis"},{"key":"145_CR5","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1183\/09031936.00194909","volume":"37","author":"C Casanova","year":"2011","unstructured":"Casanova C, Celli BR, Barria P, Casas A, Cote C, de Torres JP, et al. The 6-min walk distance in healthy subjects: reference standards from seven countries. Eur Respir J. 2011;37:150\u20136.","journal-title":"Eur Respir J"},{"key":"145_CR6","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1164\/ajrccm.166.1.at1102","volume":"166","author":"Laboratories ATSCoPSfCPF","year":"2002","unstructured":"Laboratories ATSCoPSfCPF. ATS statement: guidelines for the six-minute walk test. Am J Respir Crit Care Med. 2002;166:111\u20137.","journal-title":"Am J Respir Crit Care Med"},{"key":"145_CR7","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.ymgme.2014.02.015","volume":"112","author":"CS Andreassen","year":"2014","unstructured":"Andreassen CS, Schlutter JM, Vissing J, Andersen H. Effect of enzyme replacement therapy on isokinetic strength for all major muscle groups in four patients with Pompe disease-a long-term follow-up. Mol Genet Metab. 2014;112:40\u20133.","journal-title":"Mol Genet Metab"},{"key":"145_CR8","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1002\/ajmg.c.31320","volume":"160c","author":"SP Young","year":"2012","unstructured":"Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, et al. Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques. Am J Med Genet Part C Sem Med Genet. 2012;160c:50\u20138.","journal-title":"Am J Med Genet Part C Sem Med Genet"},{"key":"145_CR9","doi-asserted-by":"publisher","first-page":"e0163493","DOI":"10.1371\/journal.pone.0163493","volume":"11","author":"S Figueroa-Bonaparte","year":"2016","unstructured":"Figueroa-Bonaparte S, Segovia S, Llauger J, Belmonte I, Pedrosa I, Alejaldre A, et al. Muscle MRI findings in childhood\/adult onset Pompe disease correlate with muscle function. PLoS One. 2016;11:e0163493. \n                    https:\/\/doi.org\/10.1371\/journal.pone.0163493\n                    \n                  .","journal-title":"PLoS One"},{"key":"145_CR10","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1002\/mus.24437","volume":"51","author":"JJ Horvath","year":"2015","unstructured":"Horvath JJ, Austin SL, Case LE, Greene KB, Jones HN, Soher BJ, et al. Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease. Muscle Nerve. 2015;51:722\u201330.","journal-title":"Muscle Nerve"},{"key":"145_CR11","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1002\/mus.24936","volume":"53","author":"A Pichiecchio","year":"2016","unstructured":"Pichiecchio A, Berardinelli A, Moggio M, Rossi M, Balottin U, Comi GP, et al. Asymptomatic Pompe disease: can muscle magnetic resonance imaging facilitate diagnosis? Muscle Nerve. 2016;53:326\u20137.","journal-title":"Muscle Nerve"},{"key":"145_CR12","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1007\/s10545-015-9825-9","volume":"38","author":"PG Carlier","year":"2015","unstructured":"Carlier PG, Azzabou N, de Sousa PL, Hicks A, Boisserie JM, Amadon A, et al. Skeletal muscle quantitative nuclear magnetic resonance imaging follow-up of adult Pompe patients. J Inherit Metab Dis. 2015;38:565\u201372.","journal-title":"J Inherit Metab Dis"},{"key":"145_CR13","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.ymgme.2016.05.013","volume":"119","author":"A van der Ploeg","year":"2016","unstructured":"van der Ploeg A, Carlier PG, Carlier RY, Kissel JT, Schoser B, Wenninger S, et al. Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: the EMBASSY study. Mol Genet Metab. 2016;119:115\u201323.","journal-title":"Mol Genet Metab"},{"issue":"Suppl 2","key":"145_CR14","doi-asserted-by":"publisher","first-page":"S148","DOI":"10.1016\/j.nmd.2012.05.011","volume":"22","author":"A Alejaldre","year":"2012","unstructured":"Alejaldre A, Diaz-Manera J, Ravaglia S, Tibaldi EC, D'Amore F, Moris G, et al. Trunk muscle involvement in late-onset Pompe disease: study of thirty patients. Neuromuscul Disord. 2012;22(Suppl 2):S148\u201354.","journal-title":"Neuromuscul Disord"},{"key":"145_CR15","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/j.nmd.2011.06.748","volume":"21","author":"RY Carlier","year":"2011","unstructured":"Carlier RY, Laforet P, Wary C, Mompoint D, Laloui K, Pellegrini N, et al. Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: involvement patterns. Neuromuscul Disord. 2011;21:791\u20139.","journal-title":"Neuromuscul Disord"},{"key":"145_CR16","first-page":"58","volume":"3","author":"KM Gruhn","year":"2015","unstructured":"Gruhn KM, Heyer CM, Guttsches AK, Rehmann R, Nicolas V, Schmidt-Wilcke T, et al. Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy. MGM Rep. 2015;3:58\u201364.","journal-title":"MGM Rep"},{"key":"145_CR17","doi-asserted-by":"publisher","first-page":"1708","DOI":"10.2214\/AJR.08.1764","volume":"192","author":"M Schulze","year":"2009","unstructured":"Schulze M, Kotter I, Ernemann U, Fenchel M, Tzaribatchev N, Claussen CD, et al. MRI findings in inflammatory muscle diseases and their noninflammatory mimics. AJR. 2009;192:1708\u201316.","journal-title":"AJR"},{"key":"145_CR18","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1148\/radiol.13131669","volume":"270","author":"T Kanda","year":"2014","unstructured":"Kanda T, Ishii K, Kawaguchi H, Kitajima K, Takenaka D. High signal intensity in the dentate nucleus and globus pallidus on unenhanced T1-weighted MR images: relationship with increasing cumulative dose of a gadolinium-based contrast material. Radiology. 2014;270:834\u201341.","journal-title":"Radiology"},{"key":"145_CR19","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1007\/8904_2015_473","volume":"26","author":"A Rozdzynska-Swiatkowska","year":"2016","unstructured":"Rozdzynska-Swiatkowska A, Jurkiewicz E, Tylki-Szymanska A. Bioimpedance analysis as a method to evaluate the proportion of fatty and muscle tissues in progressive myopathy in Pompe disease. JIMD Rep. 2016;26:45\u201351.","journal-title":"JIMD Rep"},{"key":"145_CR20","first-page":"49","volume":"13","author":"M Orth","year":"2003","unstructured":"Orth M, Mundegar RR. Effect of acid maltase deficiency on the endosomal\/lysosomal system and glucose transporter 4. NMD. 2003;13:49\u201354.","journal-title":"NMD"},{"key":"145_CR21","doi-asserted-by":"publisher","first-page":"E169","DOI":"10.1152\/ajpendo.00066.2010","volume":"299","author":"HP Lauritzen","year":"2010","unstructured":"Lauritzen HP, Schertzer JD. Measuring GLUT4 translocation in mature muscle fibers. Am J Physiol Endocrinol Metab. 2010;299:E169\u201379.","journal-title":"Am J Physiol Endocrinol Metab"},{"key":"145_CR22","doi-asserted-by":"publisher","first-page":"1319","DOI":"10.1158\/0008-5472.CAN-13-2768","volume":"74","author":"TH Witney","year":"2014","unstructured":"Witney TH, Carroll L, Alam IS, Chandrashekran A, Nguyen QD, Sala R, et al. A novel radiotracer to image glycogen metabolism in tumors by positron emission tomography. Cancer Res. 2014;74:1319\u201328.","journal-title":"Cancer Res"},{"key":"145_CR23","doi-asserted-by":"publisher","first-page":"2191","DOI":"10.1001\/jama.2013.281053","volume":"310","author":"Association WM","year":"2013","unstructured":"Association WM. World medical association declaration of Helsinki ethical principles for medical research involving human subjects. JAMA. 2013;310:2191\u20134.","journal-title":"JAMA"}],"container-title":["Human Genomics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-018-0145-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s40246-018-0145-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s40246-018-0145-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,3,8]],"date-time":"2019-03-08T19:12:14Z","timestamp":1552072334000},"score":1,"resource":{"primary":{"URL":"https:\/\/humgenomics.biomedcentral.com\/articles\/10.1186\/s40246-018-0145-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,3,9]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["145"],"URL":"https:\/\/doi.org\/10.1186\/s40246-018-0145-7","relation":{},"ISSN":["1479-7364"],"issn-type":[{"value":"1479-7364","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,3,9]]},"assertion":[{"value":"14 December 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 February 2018","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 March 2018","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All procedures were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964, as revised in 2000 []. Informed written consent was obtained from all patients. All patients consented to the publication of their data. The institutional Ethic Committee of the Charit\u00e9 consented to the procedures and the publication of the data (EA2\/089\/15).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Ursula Pl\u00f6ckinger was the recipient of an unrestricted grant by Genzyme, Germany, received speaker honorarium from Sanofi Genzyme, Germany; BioMarin Germany, and a research grant from Pfizer, Germany. Nikolaus Tiling has received a speaker honorarium from Shire, Germany and Sanofi Genzyme, Germany. V. Prasad, A. Poellinger and A. Ziagaki have nothing to declare.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"14"}}