[Oligosaccharide excretion in a case of GM 2 gangliosidosis due to total N-acetylhexosaminidase deficiency].
D000085:Acetates / Q000652:urine; D002239:Carbohydrate Metabolism, Inborn Errors / Q000652:urine*; D011232:Chemical Precipitation; D002845:Chromatography; D002852:Chromatography, Ion Exchange; D002854:Chromatography, Paper; D003124:Colorimetry; D000431:Ethanol; D005643:Fucose / Q000652:urine; D005690:Galactose / Q000652:urine; D005732:Gangliosides / Q000378:metabolism; D005944:Glucosamine / Q000652:urine; D005947:Glucose / Q000032:analysis; D006023:Glycoproteins / Q000378:metabolism / Q000652:urine; D006026:Glycoside Hydrolases; D006595:Hexosamines / Q000652:urine; D006596:Hexosaminidases; D006601:Hexoses / Q000652:urine; D006801:Humans; D007223:Infant; D008052:Lipid Metabolism, Inborn Errors / Q000652:urine*; D008064:Lipidoses / Q000652:urine; D008358:Mannose / Q000652:urine; D009005:Monosaccharides / Q000652:urine; D009438:Neuraminic Acids / Q000652:urine; D009844:Oligosaccharides / Q000652:urine*; D014574:Uronic Acids / Q000652:urine
D000085:Acetates; D005732:Gangliosides; D006023:Glycoproteins; D006595:Hexosamines; D006601:Hexoses; D009005:Monosaccharides; D009438:Neuraminic Acids; D009844:Oligosaccharides; D014574:Uronic Acids; D005643:Fucose; D000431:Ethanol; D006026:Glycoside Hydrolases; D006596:Hexosaminidases; D005947:Glucose; D005944:Glucosamine; D008358:Mannose; D005690:Galactose
Description d'une oligosaccharidosurie accompagnant une gangliosidose GM 2 à déficit total en N-acétyl-hexosaminidases.