A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I.
Matsumori
Mika
M
Department of Pediatrics, Akita University School of Medicine, Akita, Japan. tomy@med.akita-u.ac.jp
Shoji
Yutaka
Y
Takahashi
Tsutomu
T
Shoji
Yasuko
Y
Takada
Goro
G
D001284:Atrophy / Q000235:genetics; D002675:Child, Preschool; D004746:Enoyl-CoA Hydratase / Q000235:genetics*; D005977:Glutarates / Q000652:urine*; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics*; D013687:Telencephalon / Q000473:pathology*
D005977:Glutarates; D016601:RNA-Binding Proteins; C022034:3-methylglutaconic acid; C092554:AUH protein, human; D004746:Enoyl-CoA Hydratase