https://scholars.lib.ntu.edu.tw/handle/123456789/470833
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | YIN-HSIU CHIEN | en_US |
dc.contributor.author | NI-CHUNG LEE | en_US |
dc.contributor.author | PEI-HSIN HUANG | en_US |
dc.contributor.author | WANG-TSO LEE | en_US |
dc.contributor.author | Thurberg B.L. | en_US |
dc.contributor.author | WUH-LIANG HWU | en_US |
dc.creator | Hwu W.-L.;Thurberg B.L.;Lee W.-T.;PEI-HSIN HUANG;Lee N.-C.;Chien Y.-H. | - |
dc.date.accessioned | 2020-03-05T08:16:40Z | - |
dc.date.available | 2020-03-05T08:16:40Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 0887-8994 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84863177732&doi=10.1016%2fj.pediatrneurol.2011.12.010&partnerID=40&md5=1affe354066cc329dc8c8b971cc35594 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/470833 | - |
dc.description.abstract | The treatment of later-onset Pompe disease with enzyme replacement therapy may not lead to significant improvement in muscle function, probably because of the irreversible muscle destruction caused by glycogen storage. A prospective study was performed to understand early muscle pathology in patients and the response of these pathologic changes to treatment. Five newborns and one child with later-onset Pompe disease but no signs at time of diagnosis were prospectively followed, and treatment was initiated when signs appeared. Six pretreatment biopsies taken at ages 1.5 months to 7 years indicated glycogen storage, lipid storage, stage 4 myocytes, and autophagic debris. Four 6-month posttreatment biopsies revealed glycogen clearance, but stage 4 myocytes and autophagic debris were still evident in three. In conclusion, among patients with later-onset Pompe disease and very mild signs, advanced pathologic changes were evident in a small portion of their myocytes. Because these pathologic changes may not respond to treatment, early treatment is necessary to achieve the best outcomes. ? 2012 Elsevier Inc. All rights reserved. | - |
dc.relation.ispartof | Pediatric Neurology | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | glycogen; lipid; recombinant glucan 1,4 alpha glucosidase; article; child; clinical article; clinical trial; glycogen storage disease type 2; human; human cell; human tissue; infant; lipid storage; muscle biopsy; muscle cell; pathology; preschool child; priority journal; prospective study; school child; treatment response; alpha-Glucosidases; Child; Child, Preschool; Enzyme Replacement Therapy; Female; Glycogen Storage Disease Type II; Humans; Infant; Male; Muscle, Skeletal; Prospective Studies; Treatment Outcome | - |
dc.title | Early pathologic changes and responses to treatment in patients with later-onset Pompe disease | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1016/j.pediatrneurol.2011.12.010 | - |
dc.identifier.pmid | 22353292 | - |
dc.identifier.scopus | 2-s2.0-84863177732 | - |
dc.relation.pages | 168-171 | - |
dc.relation.journalvolume | 46 | - |
dc.relation.journalissue | 3 | - |
item.cerifentitytype | Publications | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
item.grantfulltext | none | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pathology | - |
crisitem.author.dept | Pathology-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Brain and Mind Sciences | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.orcid | 0000-0001-8802-5728 | - |
crisitem.author.orcid | 0000-0002-5011-7499 | - |
crisitem.author.orcid | 0000-0002-2414-1487 | - |
crisitem.author.orcid | 0000-0003-3231-9764 | - |
crisitem.author.orcid | 0000-0001-6690-4879 | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 病理學科所 |
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