Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations.
D000293:Adolescent; D000328:Adult; D002554:Cerebrosides / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy; D005963:Glucosylceramides / Q000378:metabolism; D006801:Humans; D007223:Infant; D016030:Kidney Transplantation; D008297:Male; D010375:Pedigree; D011609:Psychosine / Q000378:metabolism; D013548:Sweden; D001617:beta-Glucosidase / Q000378:metabolism
D002554:Cerebrosides; D005963:Glucosylceramides; D011609:Psychosine; D001617:beta-Glucosidase