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Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.
Men, Lina; Feng, Jinxing; Huang, Weimin; Xu, Mingguo; Zhao, Xiaoli; Sun, Ruixin; Xu, Jianfang; Cao, Liming.
Affiliation
  • Men L; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.
  • Feng J; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.
  • Huang W; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.
  • Xu M; Department of Pediatric, the Third People's Hospital of Longgang District, Shenzhen, China.
  • Zhao X; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.
  • Sun R; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.
  • Xu J; Department of Neurology, Shenzhen Children's Hospital, Shenzhen, China.
  • Cao L; Department of Neurology, The First Affiliated Hospital of Shenzhen University, Shenzhen, China.
Medicine (Baltimore) ; 101(34): e30303, 2022 Aug 26.
Article in En | MEDLINE | ID: mdl-36042640
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Neurodegenerative Diseases Type of study: Diagnostic_studies / Risk_factors_studies Aspects: Ethics Limits: Child / Humans / Infant / Male / Newborn Language: En Journal: Medicine (Baltimore) Year: 2022 Document type: Article Affiliation country: China
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Neurodegenerative Diseases Type of study: Diagnostic_studies / Risk_factors_studies Aspects: Ethics Limits: Child / Humans / Infant / Male / Newborn Language: En Journal: Medicine (Baltimore) Year: 2022 Document type: Article Affiliation country: China