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Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
Fukao, Toshiyuki; Sasai, Hideo; Aoyama, Yuka; Otsuka, Hiroki; Ago, Yasuhiko; Matsumoto, Hideki; Abdelkreem, Elsayed.
  • Fukao T; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, 500-1194, Japan. toshi-gif@umin.net.
  • Sasai H; Division of Clinical Genetics, Gifu University Hospital, Gifu, Japan. toshi-gif@umin.net.
  • Aoyama Y; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, 500-1194, Japan.
  • Otsuka H; Department of Biomedical Sciences, College of Life and Health Sciences, Education and Training Center of Medical Technology, Chubu University, Kasugai, Japan.
  • Ago Y; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, 500-1194, Japan.
  • Matsumoto H; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, 500-1194, Japan.
  • Abdelkreem E; Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, 500-1194, Japan.
J Hum Genet ; 64(2): 99-111, 2019 Feb.
Article en En | MEDLINE | ID: mdl-30393371
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acetil-CoA C-Aciltransferasa / Tamizaje Neonatal / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Prognostic_studies Límite: Humans / Newborn Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acetil-CoA C-Aciltransferasa / Tamizaje Neonatal / Errores Innatos del Metabolismo de los Aminoácidos Tipo de estudio: Prognostic_studies Límite: Humans / Newborn Idioma: En Año: 2019 Tipo del documento: Article