https://scholars.lib.ntu.edu.tw/handle/123456789/470832
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | Liu H.-M. | en_US |
dc.contributor.author | Tsai L.-P. | en_US |
dc.contributor.author | YIN-HSIU CHIEN | en_US |
dc.contributor.author | JIA-FENG WU | en_US |
dc.contributor.author | WEN-CHIN WENG | en_US |
dc.contributor.author | STEVEN SHINN-FORNG PENG | en_US |
dc.contributor.author | EN-TING WU | en_US |
dc.contributor.author | PEI-HSIN HUANG | en_US |
dc.contributor.author | WANG-TSO LEE | en_US |
dc.contributor.author | I-JUNG TSAI | en_US |
dc.contributor.author | WUH-LIANG HWU | en_US |
dc.contributor.author | NI-CHUNG LEE | en_US |
dc.creator | Lee N.-C.;Hwu W.-L.;Tsai I.-J.;Lee W.-T.;PEI-HSIN HUANG;Wu E.-T.;Peng S.-F.;Weng W.-C.;Wu J.-F.;Chien Y.-H.;Tsai L.-P.;Liu H.-M. | - |
dc.date.accessioned | 2020-03-05T08:16:40Z | - |
dc.date.available | 2020-03-05T08:16:40Z | - |
dc.date.issued | 2012 | - |
dc.identifier.issn | 1875-9572 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84866103563&doi=10.1016%2fj.pedneo.2011.08.013&partnerID=40&md5=b47970924d3a35505849c054ef150ac3 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/470832 | - |
dc.description.abstract | Mitochondrial DNA (mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. The common clinical presentations of mtDNA deletion vary but include mitochondrial myopathy, Pearson syndrome, Kearns-Sayre syndrome, and progressive external ophthalmoplegia. Here, we report the case of a 10-year-old boy who presented with progressive deterioration of his clinical status (which included hypoglycemia, short stature, sensorineural hearing loss, retinitis pigmentosa, and chronic gastrointestinal dysmotility) that progressed to acute deterioration with pancreatitis, Fanconi syndrome, lactic acidosis, and acute encephalopathy. Following treatment, the patient was stabilized and his neurological condition improved. Through a combination of histological examinations and biochemical and molecular analyses, mitochondrial disease was confirmed. A novel 3670-base pair deletion (deletion of mtDNA nt 7,628-11,297) was identified in the muscle tissue. A direct repeat of CTACT at the breakpoints was also detected. Copyright ? 2012, Taiwan Pediatric Association. Published by Elsevier Taiwan LLC. All rights reserved. | - |
dc.relation.ispartof | Pediatrics and Neonatology | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | arginine; carnitine; mannitol; mitochondrial DNA; ubiquinone; article; brain disease; case report; child; clinical feature; disease course; echocardiography; Fanconi renotubular syndrome; gene deletion; health status; human; human tissue; laboratory test; lactic acidosis; male; mitochondrial DNA depletion syndrome; molecular diagnosis; muscle biopsy; nitrogen nuclear magnetic resonance; pancreatitis; school child; Acidosis, Lactic; Biopsy; Brain Diseases, Metabolic; Child; Disease Progression; DNA, Mitochondrial; Fanconi Syndrome; Gene Deletion; Humans; Magnetic Resonance Imaging; Male; Mitochondrial Diseases; Mitochondrial Myopathies; Oxidative Phosphorylation; Pancreatitis; Sequence Homology, Nucleic Acid; Taiwan | - |
dc.title | A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1016/j.pedneo.2011.08.013 | - |
dc.identifier.pmid | 22964285 | - |
dc.identifier.scopus | 2-s2.0-84866103563 | - |
dc.relation.pages | 264-268 | - |
dc.relation.journalvolume | 53 | - |
dc.relation.journalissue | 4 | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.fulltext | no fulltext | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.openairetype | journal article | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Radiology | - |
crisitem.author.dept | Medical Imaging-NTUH | - |
crisitem.author.dept | Nuclear Medicine-NTUH | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
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 | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Medical Genetics-NTUH | - |
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 | 0000-0001-6343-1658 | - |
crisitem.author.orcid | 0000-0002-6923-9138 | - |
crisitem.author.orcid | 0000-0002-8177-5187 | - |
crisitem.author.orcid | 0000-0002-1463-8721 | - |
crisitem.author.orcid | 0000-0002-2414-1487 | - |
crisitem.author.orcid | 0000-0003-3231-9764 | - |
crisitem.author.orcid | 0000-0003-3967-9412 | - |
crisitem.author.orcid | 0000-0001-6690-4879 | - |
crisitem.author.orcid | 0000-0002-5011-7499 | - |
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 | 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 | 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 | 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 | 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 | - |
顯示於: | 病理學科所 |
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