A case of neuroaxonal dystrophy of Seitelberger recognized intravitally.
D000596:Amino Acids / Q000652:urine; D001369:Axons; D002648:Child; D003398:Craniosynostoses / Q000175:diagnosis; D004569:Electroencephalography; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000175:diagnosis; D008297:Male; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D009896:Optic Atrophy / Q000150:complications; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis; D011782:Quadriplegia / Q000150:complications* / Q000175:diagnosis
D000596:Amino Acids