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Fatal systemic disorder caused by biallelic variants in FARSA.
Kim, Soo Yeon; Ko, Saebom; Kang, Hyunook; Kim, Man Jin; Moon, Jangsup; Lim, Byung Chan; Kim, Ki Joong; Choi, Murim; Choi, Hee-Jung; Chae, Jong-Hee.
Affiliation
  • Kim SY; Department of Genomic Medicine, Rare Disease Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro Jongno-gu, Seoul, 110-744, Korea.
  • Ko S; School of Biological Sciences, Seoul National University, Seoul, Korea.
  • Kang H; School of Biological Sciences, Seoul National University, Seoul, Korea.
  • Kim MJ; Department of Genomic Medicine, Rare Disease Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro Jongno-gu, Seoul, 110-744, Korea.
  • Moon J; Department of Genomic Medicine, Rare Disease Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro Jongno-gu, Seoul, 110-744, Korea.
  • Lim BC; Department Pediatrics, Pediatric Neuroscience Center, Seoul National University, Seoul, Korea.
  • Kim KJ; Department Pediatrics, Pediatric Neuroscience Center, Seoul National University, Seoul, Korea.
  • Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
  • Choi HJ; School of Biological Sciences, Seoul National University, Seoul, Korea. choihj@snu.ac.kr.
  • Chae JH; Department of Genomic Medicine, Rare Disease Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, 101 Daehakro Jongno-gu, Seoul, 110-744, Korea. chaeped1@snu.ac.kr.
Orphanet J Rare Dis ; 17(1): 306, 2022 08 02.
Article in En | MEDLINE | ID: mdl-35918773
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine-tRNA Ligase Limits: Humans / Newborn Language: En Journal: Orphanet J Rare Dis Year: 2022 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine-tRNA Ligase Limits: Humans / Newborn Language: En Journal: Orphanet J Rare Dis Year: 2022 Document type: Article