Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy
Case Description A 16 year old boy diagnosed with myoclonic epilepsy was admitted to our clinic. [...]the age of 14 years, he appeared healthy until generalized jerks started to occur twice a day. Conclusion Although we have not obtained enzymatic and molecular genetic evidence, the fast disease pro...
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| Veröffentlicht in: | Clinical therapeutics 2011-06, Vol.33 (6), p.S33-S33 |
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| container_title | Clinical therapeutics |
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| creator | Sukhorukov, Vladimir S Kharlamov, Dmitry A Dorofeeva, Marina Yu |
| description | Case Description A 16 year old boy diagnosed with myoclonic epilepsy was admitted to our clinic. [...]the age of 14 years, he appeared healthy until generalized jerks started to occur twice a day. Conclusion Although we have not obtained enzymatic and molecular genetic evidence, the fast disease progression, specific electron microscopic observations, the above-mentioned biochemical data, myocardial changes and hepatomegaly support the diagnosis of late-onset acid α-glycosidase deficiency. |
| doi_str_mv | 10.1016/j.clinthera.2011.05.073 |
| format | Article |
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[...]the age of 14 years, he appeared healthy until generalized jerks started to occur twice a day. Conclusion Although we have not obtained enzymatic and molecular genetic evidence, the fast disease progression, specific electron microscopic observations, the above-mentioned biochemical data, myocardial changes and hepatomegaly support the diagnosis of late-onset acid α-glycosidase deficiency.</description><identifier>ISSN: 0149-2918</identifier><identifier>EISSN: 1879-114X</identifier><identifier>DOI: 10.1016/j.clinthera.2011.05.073</identifier><language>eng</language><publisher>Bridgewater: EM Inc USA</publisher><subject>Disease ; Drug therapy ; Epilepsy ; Internal Medicine ; Medical Education ; Medical research</subject><ispartof>Clinical therapeutics, 2011-06, Vol.33 (6), p.S33-S33</ispartof><rights>2011</rights><rights>Copyright Elsevier Limited Jun 2011</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0149291811003304$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65534</link.rule.ids></links><search><creatorcontrib>Sukhorukov, Vladimir S</creatorcontrib><creatorcontrib>Kharlamov, Dmitry A</creatorcontrib><creatorcontrib>Dorofeeva, Marina Yu</creatorcontrib><title>Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy</title><title>Clinical therapeutics</title><description>Case Description A 16 year old boy diagnosed with myoclonic epilepsy was admitted to our clinic. 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Kharlamov, Dmitry A ; Dorofeeva, Marina Yu</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c259t-3db0f6fef26db353cf41dcd854d71eeeb88a4cfbb532f9543804fc125fa5d70c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Disease</topic><topic>Drug therapy</topic><topic>Epilepsy</topic><topic>Internal Medicine</topic><topic>Medical Education</topic><topic>Medical research</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Sukhorukov, Vladimir S</creatorcontrib><creatorcontrib>Kharlamov, Dmitry A</creatorcontrib><creatorcontrib>Dorofeeva, Marina Yu</creatorcontrib><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Healthcare Administration Database (Alumni)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>ProQuest Health Management</collection><collection>Medical Database</collection><collection>ProQuest Research Library</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Research Library (Corporate)</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><jtitle>Clinical therapeutics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Sukhorukov, Vladimir S</au><au>Kharlamov, Dmitry A</au><au>Dorofeeva, Marina Yu</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy</atitle><jtitle>Clinical therapeutics</jtitle><date>2011-06-01</date><risdate>2011</risdate><volume>33</volume><issue>6</issue><spage>S33</spage><epage>S33</epage><pages>S33-S33</pages><issn>0149-2918</issn><eissn>1879-114X</eissn><abstract>Case Description A 16 year old boy diagnosed with myoclonic epilepsy was admitted to our clinic. [...]the age of 14 years, he appeared healthy until generalized jerks started to occur twice a day. Conclusion Although we have not obtained enzymatic and molecular genetic evidence, the fast disease progression, specific electron microscopic observations, the above-mentioned biochemical data, myocardial changes and hepatomegaly support the diagnosis of late-onset acid α-glycosidase deficiency.</abstract><cop>Bridgewater</cop><pub>EM Inc USA</pub><doi>10.1016/j.clinthera.2011.05.073</doi></addata></record> |
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| language | eng |
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| source | Elsevier ScienceDirect Journals |
| subjects | Disease Drug therapy Epilepsy Internal Medicine Medical Education Medical research |
| title | Late Onset Pompe Disease Under the Mask of Myoclonus Epilepsy |
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