{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,11,6]],"date-time":"2024-11-06T05:30:19Z","timestamp":1730871019878,"version":"3.28.0"},"reference-count":68,"publisher":"Georg Thieme Verlag KG","issue":"01\/02","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Fortschr Neurol Psychiatr"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Zusammenfassung<\/jats:title><jats:p>Morbus Pompe ist eine schwerwiegende lysosomale Stoffwechselerkrankung, die sich\n                    von fr\u00fchester Kindheit bis ins Erwachsenenalter klinisch manifestieren\n                    kann. Ihre Diagnose wird durch ein breites Symptomspektrum erschwert. Eine\n                    fr\u00fche Diagnose mittels Enzymaktivit\u00e4tsbestimmung aus Trockenblut\n                    und humangenetischer Sicherung ist insbesondere seit Einf\u00fchrung der\n                    Enzymersatztherapie (in Deutschland 2006) entscheidend f\u00fcr das\n                    Behandlungsergebnis und die Lebensqualit\u00e4t der Patienten. Bei unklaren\n                    muskul\u00e4ren Erkrankungen ist daher auch ein M. Pompe in Erw\u00e4gung\n                    zu ziehen. Dieser Artikel gibt einen \u00dcberblick \u00fcber die\n                    Erkrankung und konzentriert sich auf die Diagnostik ihres\n                    sp\u00e4tmanifestierenden Typs, der sowohl im Kindes- und Jugendalter als\n                    auch im Erwachsenenalter auftreten kann. Die relevantesten Aspekte der\n                    interdisziplin\u00e4ren Versorgung Betroffener werden dargestellt.\n                    Dar\u00fcber hinaus beleuchtet er die psychosozialen Belastungen bei Kindern\n                    mit M. Pompe und ihren Familien, welche von psychischen St\u00f6rungen bis\n                    hin zu sozialem R\u00fcckzug reichen k\u00f6nnen und gibt Hinweise zum\n                    Umgang mit Eltern betroffener Kinder.<\/jats:p>","DOI":"10.1055\/a-2095-2977","type":"journal-article","created":{"date-parts":[[2023,7,26]],"date-time":"2023-07-26T17:50:10Z","timestamp":1690393810000},"page":"33-40","source":"Crossref","is-referenced-by-count":0,"title":["Diagnostik, Therapie und psychosoziale Aspekte bei late-onset Morbus\n                    Pompe"],"prefix":"10.1055","volume":"92","author":[{"given":"Philipp","family":"Hahn","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin,\n                    Ruhr-Universita\u0308t Bochum, St. Josef-Hospital, Bochum,\n                    Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rainer-Georg","family":"Siefen","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin,\n                    Ruhr-Universita\u0308t Bochum, St. Josef-Hospital, Bochum,\n                    Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Korbinian","family":"Benz","sequence":"additional","affiliation":[{"name":"Abteilung Zahn\u00e4rztliche Chirurgie und Poliklinische Ambulanz\n                    der privaten Universit\u00e4t Witten\/Herdecke,\n                    Universit\u00e4ts-Zahnklinik, Witten\/Herdecke, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen","family":"Jackowski","sequence":"additional","affiliation":[{"name":"Abteilung Zahn\u00e4rztliche Chirurgie und Poliklinische Ambulanz\n                    der privaten Universit\u00e4t Witten\/Herdecke,\n                    Universit\u00e4ts-Zahnklinik, Witten\/Herdecke, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cornelia","family":"K\u00f6hler","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin,\n                    Ruhr-Universita\u0308t Bochum, St. Josef-Hospital, Bochum,\n                    Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"L\u00fccke","sequence":"additional","affiliation":[{"name":"Universit\u00e4tsklinik f\u00fcr Kinder- und Jugendmedizin,\n                    Ruhr-Universita\u0308t Bochum, St. Josef-Hospital, Bochum,\n                    Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2023,7,12]]},"reference":[{"key":"ref1","first-page":"385","article-title":"Pompe disease: Shared and unshared features of lysosomal storage disorders","volume":"11","author":"J A Lim","year":"2015","journal-title":"Autophagy"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.nmd.2016.09.001","article-title":"The frequency of late-onset Pompe disease in pediatric patients with limb-girdle\n                    muscle weakness and nonspecific hyperCKemia: A multicenter study","volume":"26","author":"O \u00dcnver","year":"2016","journal-title":"Neuromuscul Disord"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1017\/cjn.2016.37","article-title":"Pompe Disease: Diagnosis and Management. 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