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Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Ittiwut, Chupong; Ittiwut, Rungnapa; Kuptanon, Chulaluck; Matsuhashi, Tetsuro; Shimura, Masaru; Sugiyama, Yohei; Onuki, Takanori; Ohtake, Akira; Murayama, Kei; Vatanavicharn, Nithiwat; Dejputtawat, Waralee; Tantisirivit, Nitchanund; Kor-Anantakul, Phawin; Kamolvisit, Wuttichart; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk.
Afiliación
  • Ittiwut C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Ittiwut R; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
  • Kuptanon C; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Matsuhashi T; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
  • Shimura M; Department of Pediatrics, Queen Sirikit National Institute of Child Health, Bangkok, Thailand.
  • Sugiyama Y; Center for Medical Genetics and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Onuki T; Center for Medical Genetics and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Ohtake A; Center for Medical Genetics and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Murayama K; Center for Medical Genetics and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Vatanavicharn N; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
  • Dejputtawat W; Center for Medical Genetics and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Tantisirivit N; Division of Medical Genetics, Department of Pediatrics, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
  • Kor-Anantakul P; Division of Growth and Development, Department of Pediatrics, Nakornping Hospital, Chiang Mai, Thailand.
  • Kamolvisit W; Department of Pediatrics, Nan Hospital, Nan, Thailand.
  • Suphapeetiporn K; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
  • Shotelersuk V; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
Sci Rep ; 13(1): 22005, 2023 12 12.
Article en En | MEDLINE | ID: mdl-38086984
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Acidosis Láctica / Enfermedades Mitocondriales Límite: Humans / Male Idioma: En Revista: Sci Rep Año: 2023 Tipo del documento: Article País de afiliación: Tailandia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Base de datos: MEDLINE Asunto principal: Acidosis Láctica / Enfermedades Mitocondriales Límite: Humans / Male Idioma: En Revista: Sci Rep Año: 2023 Tipo del documento: Article País de afiliación: Tailandia