Novel <i>ETFDH</i> 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

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

Palavras-chave

AST, aspartate aminotransferase; CK, creatine kinase; ETF, electron transfer flavoprotein; ETF-QO; ETF-QO, ETF-ubiquinone oxidoreductase; ETFDH; GAII, glutaric aciduria II; Glutaric aciduria II; LDH, lactate dehydrogenase; MADD, multiple acyl-CoA dehydrogenase deficiency; Multiple acyl-CoA dehydrogenase deficiency; RR-MADD, riboflavin-responsive MADD; Riboflavin; WES, whole exome sequencing

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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

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