Trichopoliodystrophy. I. Report of a case and biochemical studies.
D000596:Amino Acids / Q000378:metabolism; D001923:Brain Chemistry; D001927:Brain Diseases / Q000134:cerebrospinal fluid / Q000150:complications* / Q000378:metabolism; D002531:Cerebellum / Q000002:abnormalities; D002540:Cerebral Cortex / Q000002:abnormalities; D002554:Cerebrosides / Q000378:metabolism; D002784:Cholesterol / Q000378:metabolism; D004569:Electroencephalography; D006003:Glycogen / Q000378:metabolism; D006130:Growth Disorders / Q000150:complications* / Q000235:genetics; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D009410:Nerve Degeneration; D010375:Pedigree; D010634:Phenobarbital / Q000627:therapeutic use; D010672:Phenytoin / Q000627:therapeutic use; D010743:Phospholipids / Q000378:metabolism; D010955:Plasmalogens / Q000378:metabolism; D012640:Seizures / Q000150:complications; D014451:Ubiquinone / Q000652:urine; D014810:Vitamin E / Q000378:metabolism
D000596:Amino Acids; D002554:Cerebrosides; D010743:Phospholipids; D010955:Plasmalogens; D014451:Ubiquinone; D014810:Vitamin E; D010672:Phenytoin; D006003:Glycogen; D002784:Cholesterol; D010634:Phenobarbital