https://scholars.lib.ntu.edu.tw/handle/123456789/529707
DC 欄位 | 值 | 語言 |
---|---|---|
dc.contributor.author | LI-CHIEH WANG | en_US |
dc.contributor.author | WANG-TSO LEE | en_US |
dc.contributor.author | Tsai W.-Y. | en_US |
dc.contributor.author | Tsau Y.-K. | en_US |
dc.contributor.author | Shen Y.-Z. | en_US |
dc.creator | Li-Chieh Wang;Lee W.-T.;Tsai W.-Y.;Tsau Y.-K.;Shen Y.-Z. | - |
dc.date.accessioned | 2020-12-21T07:40:37Z | - |
dc.date.available | 2020-12-21T07:40:37Z | - |
dc.date.issued | 2000 | - |
dc.identifier.issn | 0887-8994 | - |
dc.identifier.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0034095649&doi=10.1016%2fS0887-8994%2800%2900128-4&partnerID=40&md5=ea7044efcd7f6b00e863bae836809d20 | - |
dc.identifier.uri | https://scholars.lib.ntu.edu.tw/handle/123456789/529707 | - |
dc.description.abstract | Severe muscle weakness in Fanconi's syndrome is rarely the result of mitochondrial cytopathy. We describe a rare case of a 9-year-old male with early onset of Fanconi's syndrome. He developed severe proximal muscle weakness exacerbated by hypokalemia and hypophosphatemia in childhood. The muscle biopsy revealed increased accumulation of abnormal mitochondria and fat droplets in histochemical stains and electron microscopy. Mitochondrial cytopathy cannot be excluded in Fanconi's syndrome with late onset of muscular impairment. Long-term follow-up of his clinical course is suggested to understand the natural history of this unusual case. Copyright (C) 2000 Elsevier Science Inc. | - |
dc.relation.ispartof | Pediatric Neurology | - |
dc.subject.classification | [SDGs]SDG3 | - |
dc.subject.other | bicarbonate; carnitine; thiamine; ubidecarenone; vitamin D; article; case report; child; disease association; disease course; disorders of mitochondrial functions; Fanconi renotubular syndrome; follow up; human; hypokalemia; male; mitochondrial myopathy; muscle biopsy; muscle weakness; priority journal; Acidosis, Renal Tubular; Biopsy; Child; Epilepsy; Fanconi Syndrome; Humans; Male; Mitochondrial Myopathies; Muscle Weakness; Muscle, Skeletal; Remission Induction; Treatment Outcome | - |
dc.title | Mitochondrial cytopathy combined with Fanconi's syndrome | en_US |
dc.type | journal article | en |
dc.identifier.doi | 10.1016/S0887-8994(00)00128-4 | - |
dc.identifier.pmid | 10913735 | - |
dc.identifier.scopus | 2-s2.0-0034095649 | - |
dc.relation.pages | 403-406 | - |
dc.relation.journalvolume | 22 | - |
dc.relation.journalissue | 5 | - |
item.openairetype | journal article | - |
item.openairecristype | http://purl.org/coar/resource_type/c_6501 | - |
item.fulltext | no fulltext | - |
item.grantfulltext | none | - |
item.cerifentitytype | Publications | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Pediatrics | - |
crisitem.author.dept | Brain and Mind Sciences | - |
crisitem.author.dept | Pediatrics-NTUH | - |
crisitem.author.orcid | 0000-0002-5773-1627 | - |
crisitem.author.orcid | 0000-0003-3231-9764 | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | College of Medicine | - |
crisitem.author.parentorg | National Taiwan University Hospital | - |
顯示於: | 醫學系 |
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