Multiple Acyl-CoA-dehydrogenase deficiency (MADD) — A novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH

2011 ◽  
Vol 307 (1-2) ◽  
pp. 166-167 ◽  
Author(s):  
A.B. Lämmer ◽  
B. Rolinski ◽  
U. Ahting ◽  
D. Heuss
Keyword(s):  
Dehydrogenase Deficiency ◽  
Novel Mutation ◽  
Electron Transferring Flavoprotein

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in thepdx1 gene

2003 ◽  
Vol 53 (2) ◽  
pp. 273-277 ◽  
Author(s):  
Runu Dey ◽  
Manuele Mine ◽  
Isabelle Desguerre ◽  
Abdelhamid Slama ◽  
Loic Van Den Berghe ◽  
...  
Keyword(s):  
Pyruvate Dehydrogenase ◽  
Dehydrogenase Deficiency ◽  
Novel Mutation ◽  
Pyruvate Dehydrogenase Deficiency

Glutaric Aciduria Type II: Autopsy Study of a Case with Electron-Transferring Flavoprotein Dehydrogenase Deficiency

1990 ◽  
Vol 10 (6) ◽  
pp. 1007-1019 ◽  
Author(s):  
Masuzo Kamiya ◽  
Tadaaki Eimoto ◽  
Hidemasa Kishimoto ◽  
Toshihiro Tsudzuki ◽  
Hideko Morishita ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Glutaric Aciduria Type ◽  
Type Ii ◽  
Autopsy Study ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type Ii ◽  
Electron Transferring Flavoprotein

Novel Mutation of Early, Perinatal-Onset, Myopathic-Type Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency

2009 ◽  
Vol 41 (2) ◽  
pp. 151-153 ◽  
Author(s):  
Seigo Korematsu ◽  
Yujiro Kosugi ◽  
Toshihide Kumamoto ◽  
Seiji Yamaguchi ◽  
Tatsuro Izumi
Keyword(s):  
Dehydrogenase Deficiency ◽  
Novel Mutation ◽  
Chain Acyl ◽  
Long Chain

Molecular Diagnosis for a Fatal Case of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Hong Kong Chinese With a Novel Mutation

2012 ◽  
Vol 21 (3) ◽  
pp. 184-187 ◽  
Author(s):  
Wai-Kwan Siu ◽  
Chloe Miu Mak ◽  
Sylvia Luen-Yee Siu ◽  
Tak-Shing Siu ◽  
Chun-Yin Pang ◽  
...  
Keyword(s):  
Hong Kong ◽  
Molecular Diagnosis ◽  
Dehydrogenase Deficiency ◽  
Novel Mutation ◽  
Fatal Case ◽  
Hong Kong Chinese ◽  
Chain Acyl ◽  
Long Chain

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of α-ketoglutarate dehydrogenase deficiency

2005 ◽  
Vol 25 (3) ◽  
pp. 323-324 ◽  
Author(s):  
Marie-Hélène Odièvre ◽  
Dominique Chretien ◽  
Arnold Munnich ◽  
Brian H. Robinson ◽  
Renée Dumoulin ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Novel Mutation ◽  
Subunit Gene ◽  
Dihydrolipoamide Dehydrogenase ◽  
Atypical Form ◽  
Ketoglutarate Dehydrogenase

Lipoamide Dehydrogenase Deficiency Due to a Novel Mutation in the Interface Domain

1999 ◽  
Vol 262 (1) ◽  
pp. 163-166 ◽  
Author(s):  
Eilon Shany ◽  
Ann Saada ◽  
Daniella Landau ◽  
Avraham Shaag ◽  
Eli Hershkovitz ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Novel Mutation ◽  
Lipoamide Dehydrogenase
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