Screening for late-onset Pompe disease in Finland
Highlights • We screened 108 myopathy patients for late-onset Pompe disease in Finland. • The screening did not reveal new Pompe patients. • Pompe disease is extremely rare in Finland.
Gespeichert in:
| Veröffentlicht in: | Neuromuscular disorders : NMD 2014-11, Vol.24 (11), p.982-985 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 985 |
|---|---|
| container_issue | 11 |
| container_start_page | 982 |
| container_title | Neuromuscular disorders : NMD |
| container_volume | 24 |
| creator | Palmio, Johanna Auranen, Mari Kiuru-Enari, Sari Löfberg, Mervi Bodamer, Olaf Udd, Bjarne |
| description | Highlights • We screened 108 myopathy patients for late-onset Pompe disease in Finland. • The screening did not reveal new Pompe patients. • Pompe disease is extremely rare in Finland. |
| doi_str_mv | 10.1016/j.nmd.2014.06.438 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1635032353</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>1_s2_0_S096089661400604X</els_id><sourcerecordid>1635032353</sourcerecordid><originalsourceid>FETCH-LOGICAL-c511t-2845f77aed014730b024c6d85a3158ba2507de4a9a09a130391e12e140a399f73</originalsourceid><addsrcrecordid>eNqNkU2LFDEURYMoTjv6A9xILd1U-V4-KwiCDI4zMKAwCu5COvVK0lal2qR6YP69aXp04UJcvc25l8t5jL1E6BBQv9l1aR46Dig70J0U_SO2wd6IlgstH7MNWA1tb7U-Y89K2QGgMto8ZWdcgTRa2w3D25CJUkzfm3HJzeRXapdUaG0-L_OemiEW8oWamJrLmCafhufsyeinQi8e7jn7evnhy8VVe_Pp4_XF-5s2KMS15b1UozGehjrPCNgCl0EPvfICVb_1dYIZSHrrwXoUICwSckIJXlg7GnHOXp9693n5eaCyujmWQFPdQMuhONRCgeBCif9AubXacNVXFE9oyEspmUa3z3H2-d4huKNUt3NVqjtKdaBdlVozrx7qD9uZhj-J3xYr8PYEUPVxFym7EiKlQEPMFFY3LPGf9e_-Socpphj89IPuqeyWQ05VtENXuAN3e_zq8alVFWiQ38QvNrOZJQ</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1629967258</pqid></control><display><type>article</type><title>Screening for late-onset Pompe disease in Finland</title><source>MEDLINE</source><source>Access via ScienceDirect (Elsevier)</source><creator>Palmio, Johanna ; Auranen, Mari ; Kiuru-Enari, Sari ; Löfberg, Mervi ; Bodamer, Olaf ; Udd, Bjarne</creator><creatorcontrib>Palmio, Johanna ; Auranen, Mari ; Kiuru-Enari, Sari ; Löfberg, Mervi ; Bodamer, Olaf ; Udd, Bjarne</creatorcontrib><description>Highlights • We screened 108 myopathy patients for late-onset Pompe disease in Finland. • The screening did not reveal new Pompe patients. • Pompe disease is extremely rare in Finland.</description><identifier>ISSN: 0960-8966</identifier><identifier>EISSN: 1873-2364</identifier><identifier>DOI: 10.1016/j.nmd.2014.06.438</identifier><identifier>PMID: 25047669</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; alpha-Glucosidases - blood ; Female ; Finland - epidemiology ; Glycogen storage disease type II ; Glycogen Storage Disease Type II - blood ; Glycogen Storage Disease Type II - diagnosis ; Glycogen Storage Disease Type II - epidemiology ; Humans ; Late-onset ; Male ; Mass Screening ; Middle Aged ; Neural Conduction - genetics ; Neurology ; Pompe disease ; Screening ; Tomography Scanners, X-Ray Computed ; Young Adult</subject><ispartof>Neuromuscular disorders : NMD, 2014-11, Vol.24 (11), p.982-985</ispartof><rights>Elsevier B.V.</rights><rights>2014 Elsevier B.V.</rights><rights>Copyright © 2014 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c511t-2845f77aed014730b024c6d85a3158ba2507de4a9a09a130391e12e140a399f73</citedby><cites>FETCH-LOGICAL-c511t-2845f77aed014730b024c6d85a3158ba2507de4a9a09a130391e12e140a399f73</cites><orcidid>0000-0002-9597-4603</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.nmd.2014.06.438$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25047669$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Palmio, Johanna</creatorcontrib><creatorcontrib>Auranen, Mari</creatorcontrib><creatorcontrib>Kiuru-Enari, Sari</creatorcontrib><creatorcontrib>Löfberg, Mervi</creatorcontrib><creatorcontrib>Bodamer, Olaf</creatorcontrib><creatorcontrib>Udd, Bjarne</creatorcontrib><title>Screening for late-onset Pompe disease in Finland</title><title>Neuromuscular disorders : NMD</title><addtitle>Neuromuscul Disord</addtitle><description>Highlights • We screened 108 myopathy patients for late-onset Pompe disease in Finland. • The screening did not reveal new Pompe patients. • Pompe disease is extremely rare in Finland.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>alpha-Glucosidases - blood</subject><subject>Female</subject><subject>Finland - epidemiology</subject><subject>Glycogen storage disease type II</subject><subject>Glycogen Storage Disease Type II - blood</subject><subject>Glycogen Storage Disease Type II - diagnosis</subject><subject>Glycogen Storage Disease Type II - epidemiology</subject><subject>Humans</subject><subject>Late-onset</subject><subject>Male</subject><subject>Mass Screening</subject><subject>Middle Aged</subject><subject>Neural Conduction - genetics</subject><subject>Neurology</subject><subject>Pompe disease</subject><subject>Screening</subject><subject>Tomography Scanners, X-Ray Computed</subject><subject>Young Adult</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU2LFDEURYMoTjv6A9xILd1U-V4-KwiCDI4zMKAwCu5COvVK0lal2qR6YP69aXp04UJcvc25l8t5jL1E6BBQv9l1aR46Dig70J0U_SO2wd6IlgstH7MNWA1tb7U-Y89K2QGgMto8ZWdcgTRa2w3D25CJUkzfm3HJzeRXapdUaG0-L_OemiEW8oWamJrLmCafhufsyeinQi8e7jn7evnhy8VVe_Pp4_XF-5s2KMS15b1UozGehjrPCNgCl0EPvfICVb_1dYIZSHrrwXoUICwSckIJXlg7GnHOXp9693n5eaCyujmWQFPdQMuhONRCgeBCif9AubXacNVXFE9oyEspmUa3z3H2-d4huKNUt3NVqjtKdaBdlVozrx7qD9uZhj-J3xYr8PYEUPVxFym7EiKlQEPMFFY3LPGf9e_-Socpphj89IPuqeyWQ05VtENXuAN3e_zq8alVFWiQ38QvNrOZJQ</recordid><startdate>20141101</startdate><enddate>20141101</enddate><creator>Palmio, Johanna</creator><creator>Auranen, Mari</creator><creator>Kiuru-Enari, Sari</creator><creator>Löfberg, Mervi</creator><creator>Bodamer, Olaf</creator><creator>Udd, Bjarne</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>7TK</scope><orcidid>https://orcid.org/0000-0002-9597-4603</orcidid></search><sort><creationdate>20141101</creationdate><title>Screening for late-onset Pompe disease in Finland</title><author>Palmio, Johanna ; Auranen, Mari ; Kiuru-Enari, Sari ; Löfberg, Mervi ; Bodamer, Olaf ; Udd, Bjarne</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c511t-2845f77aed014730b024c6d85a3158ba2507de4a9a09a130391e12e140a399f73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>alpha-Glucosidases - blood</topic><topic>Female</topic><topic>Finland - epidemiology</topic><topic>Glycogen storage disease type II</topic><topic>Glycogen Storage Disease Type II - blood</topic><topic>Glycogen Storage Disease Type II - diagnosis</topic><topic>Glycogen Storage Disease Type II - epidemiology</topic><topic>Humans</topic><topic>Late-onset</topic><topic>Male</topic><topic>Mass Screening</topic><topic>Middle Aged</topic><topic>Neural Conduction - genetics</topic><topic>Neurology</topic><topic>Pompe disease</topic><topic>Screening</topic><topic>Tomography Scanners, X-Ray Computed</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Palmio, Johanna</creatorcontrib><creatorcontrib>Auranen, Mari</creatorcontrib><creatorcontrib>Kiuru-Enari, Sari</creatorcontrib><creatorcontrib>Löfberg, Mervi</creatorcontrib><creatorcontrib>Bodamer, Olaf</creatorcontrib><creatorcontrib>Udd, Bjarne</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Palmio, Johanna</au><au>Auranen, Mari</au><au>Kiuru-Enari, Sari</au><au>Löfberg, Mervi</au><au>Bodamer, Olaf</au><au>Udd, Bjarne</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Screening for late-onset Pompe disease in Finland</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>2014-11-01</date><risdate>2014</risdate><volume>24</volume><issue>11</issue><spage>982</spage><epage>985</epage><pages>982-985</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>Highlights • We screened 108 myopathy patients for late-onset Pompe disease in Finland. • The screening did not reveal new Pompe patients. • Pompe disease is extremely rare in Finland.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>25047669</pmid><doi>10.1016/j.nmd.2014.06.438</doi><tpages>4</tpages><orcidid>https://orcid.org/0000-0002-9597-4603</orcidid></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0960-8966 |
| ispartof | Neuromuscular disorders : NMD, 2014-11, Vol.24 (11), p.982-985 |
| issn | 0960-8966 1873-2364 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1635032353 |
| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Adolescent Adult Aged Aged, 80 and over alpha-Glucosidases - blood Female Finland - epidemiology Glycogen storage disease type II Glycogen Storage Disease Type II - blood Glycogen Storage Disease Type II - diagnosis Glycogen Storage Disease Type II - epidemiology Humans Late-onset Male Mass Screening Middle Aged Neural Conduction - genetics Neurology Pompe disease Screening Tomography Scanners, X-Ray Computed Young Adult |
| title | Screening for late-onset Pompe disease in Finland |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-21T16%3A47%3A44IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Screening%20for%20late-onset%20Pompe%20disease%20in%20Finland&rft.jtitle=Neuromuscular%20disorders%20:%20NMD&rft.au=Palmio,%20Johanna&rft.date=2014-11-01&rft.volume=24&rft.issue=11&rft.spage=982&rft.epage=985&rft.pages=982-985&rft.issn=0960-8966&rft.eissn=1873-2364&rft_id=info:doi/10.1016/j.nmd.2014.06.438&rft_dat=%3Cproquest_cross%3E1635032353%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1629967258&rft_id=info:pmid/25047669&rft_els_id=1_s2_0_S096089661400604X&rfr_iscdi=true |