Sanfilippo syndrome: Causes, consequences, and treatments

Application of Clinical Genetics

Volumn 8, Issue , 2015, Pages 269-281

  Fedele, Anthony O ^a  

^a SOUTH AUSTRALIAN HEALTH AND MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

Lysosomal storage disease; Mucopolysaccharidosis III; Sanfilippo syndrome

Indexed keywords

ACYLTRANSFERASE; ALPHA GLUCOSAMINIDE N ACETYLTRANSFERASE; ALPHA N ACETYLGLUCOSAMINIDASE; AMIDASE; APOLIPOPROTEIN B IDURONATE 2 SULFATASE SULFAMIDASE FUSION PROTEIN; GENISTEIN; GENOMIC DNA; HYBRID PROTEIN; N ACETYLGLUCOSAMINE 6 SULFATASE; PROTEOHEPARAN SULFATE; RHODAMINE B; SULFAMIDASE; UNCLASSIFIED DRUG;

BIOACCUMULATION; BIOCHEMISTRY; CARBOHYDRATE METABOLISM; CLINICAL FEATURE; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ASSAY; ENZYME REPLACEMENT; GENE MUTATION; GENE THERAPY; GNS GENE; HGSNAT GENE; HUMAN; HUNTER SYNDROME; MUCOPOLYSACCHARIDOSIS TYPE III A; MUCOPOLYSACCHARIDOSIS TYPE III B; MUCOPOLYSACCHARIDOSIS TYPE III C; MUCOPOLYSACCHARIDOSIS TYPE III D; MUCOPOLYSACCHARIDOSIS TYPE III E; MUCOPOLYSACCHARIDOSIS TYPE IIIB; NAGLU GENE; NEWBORN SCREENING; NONHUMAN; PATHOPHYSIOLOGY; PROTEIN DEGRADATION; REVIEW; SANFILIPPO SYNDROME; SGSH GENE; TRANSCRIPTION REGULATION;

EID: 84948952282     PISSN: None     EISSN: 1178704X     Source Type: Journal    
DOI: 10.2147/TACG.S57672     Document Type: Review

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