[You make the diagnosis. Mucopolysaccharidosis III A (Sanfillipo A disease)].
D002675:Child, Preschool; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005808:Genes, Recessive; D006025:Glycosaminoglycans / Q000652:urine; D006801:Humans; D006867:Hydrolases / Q000172:deficiency; D009083:Mucopolysaccharidoses / Q000235:genetics*; D009084:Mucopolysaccharidosis III / Q000201:enzymology / Q000235:genetics*
D006025:Glycosaminoglycans; D006867:Hydrolases; C022708:N-sulfoglucosamine sulfohydrolase
Stellen Sie die Diagnose. Mukopolysaccharidose III A (Mb. Sanfillipo A).