Rhabdomyolysis and respiratory insufficiency due to the common ETFDH mutation of c.250G>A in two patients with late-onset multiple acyl-CoA dehydrogenase deficiency.

Chen, Hai-Zhu; Jin, Ming; Cai, Nai-Qing; Lin, Xiao-Dan; Liu, Xin-Yi; Xu, Liu-Qing; Lin, Min-Ting; Lin, Feng; Wang, Ning; Wang, Zhi-Qiang; Xu, Guo-Rong

Chen, Hai-Zhu; Jin, Ming; Cai, Nai-Qing; Lin, Xiao-Dan; Liu, Xin-Yi; Xu, Liu-Qing; Lin, Min-Ting; Lin, Feng; Wang, Ning; Wang, Zhi-Qiang; Xu, Guo-Rong.

Afiliação

Chen HZ; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
Jin M; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
Cai NQ; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
Lin XD; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
Liu XY; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
Xu LQ; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
Lin MT; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
Lin F; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
Wang N; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
Wang ZQ; Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian 350005, China.
Xu GR; Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.

Chin Med J (Engl) ; 132(13): 1615-1618, 2019 Jul 05.

Article em En | MEDLINE | ID: mdl-31058673

Assuntos

Flavoproteínas Transferidoras de Elétrons/genética; Proteínas Ferro-Enxofre/genética; Deficiência Múltipla de Acil Coenzima A Desidrogenase/genética; Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética; Insuficiência Respiratória/genética; Rabdomiólise/genética; Rabdomiólise/fisiopatologia; Humanos; Masculino; Pessoa de Meia-Idade; Deficiência Múltipla de Acil Coenzima A Desidrogenase/fisiopatologia; Mutação/genética

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Insuficiência Respiratória / Rabdomiólise / Flavoproteínas Transferidoras de Elétrons / Deficiência Múltipla de Acil Coenzima A Desidrogenase / Oxirredutases atuantes sobre Doadores de Grupo CH-NH / Proteínas Ferro-Enxofre Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google