Infantile neuroaxonal dystrophy. Clinical, pathologic, and histochemical findings in a family with 3 affected siblings.
D000135:Acid Phosphatase / Q000032:analysis; D001369:Axons / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D008058:Dihydrolipoamide Dehydrogenase / Q000032:analysis; D005260:Female; D005917:Globus Pallidus / Q000473:pathology; D005954:Glucosephosphate Dehydrogenase / Q000032:analysis; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D007521:Isocitrate Dehydrogenase / Q000032:analysis; D007770:L-Lactate Dehydrogenase / Q000032:analysis; D009132:Muscles / Q000503:physiopathology; D009410:Nerve Degeneration; D009422:Nervous System Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D010858:Pigmentation; D012021:Reflex, Abnormal / Q000150:complications; D012677:Sensation; D012877:Skin Manifestations; D013064:Speech Disorders / Q000235:genetics; D013116:Spinal Cord / Q000201:enzymology / Q000473:pathology; D014811:Vitamin E Deficiency
D007770:L-Lactate Dehydrogenase; D007521:Isocitrate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D008058:Dihydrolipoamide Dehydrogenase; D000135:Acid Phosphatase