A sporadic case of presumed Pelizaeus-Merzbacher disease.
D001369:Axons; D001706:Biopsy; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002554:Cerebrosides / Q000378:metabolism; D002648:Child; D002855:Chromatography, Thin Layer; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D005732:Gangliosides / Q000378:metabolism; D006801:Humans; D050356:Lipid Metabolism; D008854:Microscopy, Electron; D009186:Myelin Sheath; D009457:Neuroglia; D010713:Phosphatidylcholines / Q000378:metabolism; D010714:Phosphatidylethanolamines / Q000378:metabolism; D011011:Pneumoencephalography; D013109:Sphingomyelins / Q000378:metabolism; D013433:Sulfoglycosphingolipids / Q000378:metabolism
D002554:Cerebrosides; D005732:Gangliosides; D010713:Phosphatidylcholines; D010714:Phosphatidylethanolamines; D013109:Sphingomyelins; D013433:Sulfoglycosphingolipids