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Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency.
Fan, Xin; Xie, Bobo; Zou, Jun; Luo, Jingsi; Qin, Zailong; D'Gama, Alissa M; Shi, Jiahai; Yi, Shang; Yang, Qi; Wang, Jin; Luo, Shiyu; Chen, Shaoke; Agrawal, Pankaj B; Li, Qifei; Shen, Yiping.
Afiliação
  • Fan X; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • Xie B; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • Zou J; Department of Gastroenterology, The Second Affiliated Hospital, Guangxi Medical University, Nanning 530000, People's Republic of China.
  • Luo J; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • Qin Z; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • D'Gama AM; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Shi J; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Yi S; Department of Biomedical Sciences, City University of Hong Kong, Kowloon, Hong Kong Special Administrative Region.
  • Yang Q; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • Wang J; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • Luo S; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • Chen S; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • Agrawal PB; Genetic and Metabolic Central Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530003, People's Republic of China.
  • Li Q; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
  • Shen Y; The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.
Mol Genet Metab Rep ; 16: 15-19, 2018 Sep.
Article em En | MEDLINE | ID: mdl-29988809

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2018 Tipo de documento: Article País de publicação: Estados Unidos