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A case of ATR-X syndrome with mitochondrial respiratory chain dysfunction.
Aiba, Kaori; Nakamura, Yuji; Sugimoto, Mari; Yatsuka, Yukiko; Okazaki, Yasushi; Murayama, Kei; Ohtake, Akira; Yokochi, Kenji; Saitoh, Shinji.
Affiliation
  • Aiba K; Department of Pediatrics, Toyohashi Municipal Hospital, Aichi, Japan. Electronic address: kaori_aiba@sk00106.achmc.pref.aichi.jp.
  • Nakamura Y; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan.
  • Sugimoto M; Department of Pediatrics, Toyohashi Municipal Hospital, Aichi, Japan.
  • Yatsuka Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Okazaki Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; Center for Medical Genetics, Chiba Children's Hospital, Chiba, Japan.
  • Ohtake A; Department of Pediatrics & Clinical Genomics, Saitama Medical University, Saitama, Japan; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
  • Yokochi K; Department of Pediatrics, Toyohashi Municipal Hospital, Aichi, Japan; Department of Pediatrics, Hanna-Sawarabi Ryoikuen, Gunma, Japan.
  • Saitoh S; Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan.
Eur J Med Genet ; 64(8): 104251, 2021 Aug.
Article in En | MEDLINE | ID: mdl-34051360
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alpha-Thalassemia / Mental Retardation, X-Linked / Electron Transport Complex I / X-linked Nuclear Protein Limits: Child, preschool / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Country of publication: Netherlands
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Alpha-Thalassemia / Mental Retardation, X-Linked / Electron Transport Complex I / X-linked Nuclear Protein Limits: Child, preschool / Humans / Male Language: En Journal: Eur J Med Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Country of publication: Netherlands