[Tapetoretinal degeneration, deafness, myoclonus, dementia, epilepsy with the presence of excess alpha-amino-n-butyric acid. Contribution to the study of leptomeningeal angiomatosis with leukodystrophy sudanophil and abiotrophic complexes].
D000613:Aminobutyrates / Q000378:metabolism*; D000798:Angiomatosis / Q000378:metabolism* / Q000473:pathology; D001921:Brain / Q000473:pathology; D002540:Cerebral Cortex / Q000032:analysis; D002648:Child; D003638:Deafness / Q000378:metabolism*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000378:metabolism* / Q000473:pathology; D004827:Epilepsy / Q000378:metabolism*; D006651:Histocytochemistry; D006801:Humans; D008607:Intellectual Disability; D009207:Myoclonus / Q000378:metabolism*; D009410:Nerve Degeneration; D010525:Peripheral Nerves / Q000473:pathology; D012162:Retinal Degeneration / Q000473:pathology; D012163:Retinal Detachment / Q000378:metabolism*; D012174:Retinitis Pigmentosa / Q000378:metabolism*; D013194:Staining and Labeling
D000613:Aminobutyrates
Degénérescence tapéto-rétinienne, surdité, myoclonies, démence, épilepsie avec présence d'acide alpha-amino-n-butyrique en excès. Contribution à l'etude des angiomatoses leptoméningées avec leukodystrophie soudanophile et abiotrophies complexes.