[Authentic Hurler's disease with normal intelligence in 1 adult and her 2 cousins].
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D008297:Male; D008059:Mucopolysaccharidosis I / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography
D006025:Glycosaminoglycans
Maladie de Hurler authentique avec intelligence normale chez une adulte et ses deux germains.