Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase.
Kmoch
S
S
Center for Inherited Metabolic Disorders, General Faculty Hospital, Prague 2, Czech Republic.
Zeman
J
J
Hrebícek
M
M
Ryba
L
L
Kristensen
M J
MJ
Gregersen
N
N
D042964:Acyl-CoA Dehydrogenase; D044944:Acyl-CoA Dehydrogenases / Q000235:genetics*; D000483:Alleles; D000927:Anticonvulsants / Q000627:therapeutic use*; D002478:Cells, Cultured; D002675:Child, Preschool; D004827:Epilepsy / Q000188:drug therapy* / Q000235:genetics; D005232:Fatty Acids, Volatile / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D005500:Follow-Up Studies; D014644:Genetic Variation; D006801:Humans; D010084:Oxidation-Reduction; D012256:Riboflavin / Q000627:therapeutic use*
D000927:Anticonvulsants; D005232:Fatty Acids, Volatile; D044944:Acyl-CoA Dehydrogenases; D042964:Acyl-CoA Dehydrogenase; D012256:Riboflavin