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신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례
DC Field | Value | Language |
---|---|---|
dc.contributor.author | 남궁란 | - |
dc.contributor.author | 박민수 | - |
dc.contributor.author | 이동우 | - |
dc.contributor.author | 이영목 | - |
dc.contributor.author | 이진성 | - |
dc.contributor.author | 이철 | - |
dc.contributor.author | 최경민 | - |
dc.contributor.author | 권해식 | - |
dc.date.accessioned | 2015-07-15T17:20:04Z | - |
dc.date.available | 2015-07-15T17:20:04Z | - |
dc.date.issued | 2003 | - |
dc.identifier.issn | 1229-2605 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/114696 | - |
dc.description.abstract | Mitochondrial diseases are classified into the three major categories, defects of fatly acid oxidation, defects of pyruvate metabolism, and defects of the respiratory chain, and all of these cause severe neuron-logic dysfunction in the newborn period. Defects of the mitochondrial respiratory chain present as recurrent apnea, seizures, congenital lactic acidosis, hypotonia, hepatic dysfunction and hypertrophic cardiomyopathy in the neonatal period. Laboratory findings of hyperlactataemia (>2.5mM), elevated lactate/ pyruvate (L/P) ratio (>20) and ketone body ratio (>2) suggest the diagnosis of mitochondrial respiratory chain defects. We report a case of mitochondrial respiratory chain defect diagnosed in the neonatal period presenting with multiorgan failure consisting of severe metabolic acidosis, comatous mental state, respiratory distress, hepatic dysfunction, renal failure with lactic acidosis (24mM), increased L/P ratios (55.6) and ketonuria (increased ratio of 3-hydroxybutyrate/acetoacetate). | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.relation.isPartOf | Korean Journal of Perinatology (대한주산의학회잡지) | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Mitochondrial respiratory chain defect | - |
dc.subject.MESH | Lactic acidosis | - |
dc.subject.MESH | Newborn | - |
dc.title | 신생아기에 진단된 미토콘드리아 호흡 사슬 결함 1례 | - |
dc.title.alternative | A Case of Mitochondrial Respiratory Chain Defect Diagnosed in the Neonatal Period | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학) | - |
dc.contributor.googleauthor | 최경민 | - |
dc.contributor.googleauthor | 권해식 | - |
dc.contributor.googleauthor | 이진성 | - |
dc.contributor.googleauthor | 이영목 | - |
dc.contributor.googleauthor | 이철 | - |
dc.contributor.googleauthor | 박민수 | - |
dc.contributor.googleauthor | 남궁란 | - |
dc.contributor.googleauthor | 이동우 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A03227 | - |
dc.contributor.localId | A01241 | - |
dc.contributor.localId | A01468 | - |
dc.contributor.localId | A02727 | - |
dc.contributor.localId | A02955 | - |
dc.contributor.localId | A03253 | - |
dc.contributor.localId | A04032 | - |
dc.contributor.localId | A00259 | - |
dc.relation.journalcode | J02101 | - |
dc.subject.keyword | Mitochondrial respiratory chain defect | - |
dc.subject.keyword | Lactic acidosis | - |
dc.subject.keyword | Newborn | - |
dc.contributor.alternativeName | Namgung, Ran | - |
dc.contributor.alternativeName | Park, Min Soo | - |
dc.contributor.alternativeName | Lee, Dong Woo | - |
dc.contributor.alternativeName | Lee, Young Mock | - |
dc.contributor.alternativeName | Lee, Jin Sung | - |
dc.contributor.alternativeName | Lee, Chul | - |
dc.contributor.alternativeName | Choi, Kyong Min | - |
dc.contributor.alternativeName | Kwon, Hae Sik | - |
dc.contributor.affiliatedAuthor | Lee, Jin Sung | - |
dc.contributor.affiliatedAuthor | Namgung, Ran | - |
dc.contributor.affiliatedAuthor | Park, Min Soo | - |
dc.contributor.affiliatedAuthor | Lee, Dong Woo | - |
dc.contributor.affiliatedAuthor | Lee, Young Mock | - |
dc.contributor.affiliatedAuthor | Lee, Chul | - |
dc.contributor.affiliatedAuthor | Choi, Kyong Min | - |
dc.contributor.affiliatedAuthor | Kwon, Hae Sik | - |
dc.rights.accessRights | free | - |
dc.citation.volume | 14 | - |
dc.citation.number | 1 | - |
dc.citation.startPage | 50 | - |
dc.citation.endPage | 55 | - |
dc.identifier.bibliographicCitation | Korean Journal of Perinatology (대한주산의학회잡지), Vol.14(1) : 50-55, 2003 | - |
dc.identifier.rimsid | 46068 | - |
dc.type.rims | ART | - |
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