4-Hydroxybutyric aciduria: clinical findings and vigabatrin therapy.
Uziel
G
G
Child Neurology Department, Istituto Neurologico C. Besta, Milan, Italy.
Bardelli
P
P
Pantaleoni
C
C
Rimoldi
M
M
Savoiardo
M
M
D000445:Aldehyde Oxidoreductases / Q000172:deficiency*; D000927:Anticonvulsants / Q000627:therapeutic use*; D002648:Child; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000188:drug therapy* / Q000652:urine*; D009422:Nervous System Diseases / Q000188:drug therapy / Q000652:urine; D010641:Phenotype; D012978:Sodium Oxybate / Q000652:urine*; D013050:Spectrometry, Fluorescence; D050644:Succinate-Semialdehyde Dehydrogenase; D020888:Vigabatrin; D005680:gamma-Aminobutyric Acid / Q000031:analogs & derivatives* / Q000627:therapeutic use
D000927:Anticonvulsants; D005680:gamma-Aminobutyric Acid; D012978:Sodium Oxybate; D000445:Aldehyde Oxidoreductases; C493643:ALDH5A1 protein, human; D050644:Succinate-Semialdehyde Dehydrogenase; D020888:Vigabatrin