Sanfilippo syndrome: Overall review

Pediatrics International

Volumn 57, Issue 3, 2015, Pages 331-338

  Andrade, Fernando ^a   Aldámiz Echevarría, Luis ^a   Llarena, Marta ^a   Couce, María Luz ^a  

^a CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

behavioral problem; developmental delay; heparan sulfate; mucopolysaccharidosis type III

Indexed keywords

ACYLTRANSFERASE; GENISTEIN; PROTHROMBIN; RECOMBINANT ENZYME; RECOMBINANT HEPARAN N SULFATASE; UNCLASSIFIED DRUG; GLYCOSAMINOGLYCAN;

CLINICAL FEATURE; CORD BLOOD STEM CELL TRANSPLANTATION; DIFFERENTIAL DIAGNOSIS; DRUG EFFICACY; DRUG SAFETY; DRUG TOLERABILITY; ENZYME ACTIVITY; ENZYME DEGRADATION; ENZYME LOCALIZATION; ENZYME METABOLISM; ENZYME REPLACEMENT; ENZYME SYNTHESIS; ENZYMURIA; FIBROBLAST; FOLLOW UP; GENE; GENE THERAPY; GNS GENE; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HGSNAT GENE; HUMAN; LEUKOCYTE; MICROVASCULATURE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NAGLU GENE; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; REVIEW; SANFILIPPO SYNDROME; SGSH GENE; DIAGNOSTIC IMAGING; DISEASE MANAGEMENT; HEALTH; METABOLISM; MORBIDITY; MUCOPOLYSACCHARIDOSIS III;

DIAGNOSTIC IMAGING; DISEASE MANAGEMENT; GLOBAL HEALTH; GLYCOSAMINOGLYCANS; HUMANS; MORBIDITY; MUCOPOLYSACCHARIDOSIS III;

EID: 84933503694     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12636     Document Type: Review

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