[Advantage of the skin biopsy in sphingolipidosis and mucopolysaccharidosis in children. A case of Norman-Landing disease with enzyme and ultrastructural study].
D001706:Biopsy; D002554:Cerebrosides / Q000378:metabolism; D004796:Clinical Enzyme Tests; D005260:Female; D005732:Gangliosides / Q000378:metabolism; D005776:Gaucher Disease; D006025:Glycosaminoglycans / Q000378:metabolism*; D006801:Humans; D007223:Infant; D008064:Lipidoses / Q000175:diagnosis* / Q000201:enzymology / Q000473:pathology; D008661:Metabolism, Inborn Errors; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses; D009542:Niemann-Pick Diseases; D012867:Skin / Q000473:pathology; D012882:Skin Tests; D013109:Sphingomyelins / Q000378:metabolism
D002554:Cerebrosides; D005732:Gangliosides; D006025:Glycosaminoglycans; D013109:Sphingomyelins
Intérêt de la biopsie cutanée dans les sphingolipidoses et les mucopolysaccharidoses de l'enfant. A propos d'un cas de maladie de Norman-Landing avec recherches enzymatiques et ultra-structurales.