Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis.
D000135:Acid Phosphatase / Q000032:analysis; D000469:Alkaline Phosphatase / Q000032:analysis; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology / Q000201:enzymology; D001921:Brain / Q000201:enzymology; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005966:Glucuronidase / Q000032:analysis; D006579:Heterozygote; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D007668:Kidney / Q000473:pathology; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics; D008099:Liver / Q000201:enzymology; D008297:Male; D008854:Microscopy, Electron; D010636:Phenols; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012583:Schwann Cells; D012584:Sciatic Nerve / Q000473:pathology; D013107:Sphingolipids / Q000378:metabolism; D013429:Sulfatases / Q000032:analysis*
D010636:Phenols; D013107:Sphingolipids; D000469:Alkaline Phosphatase; D000135:Acid Phosphatase; D013429:Sulfatases; D006596:Hexosaminidases; D005966:Glucuronidase