Late-onset visceral presentation with cardiomyopathy and without neurological symptoms of adult Sanfilippo a syndrome

American Journal of Medical Genetics

Volumn 118 A, Issue 4, 2003, Pages 382-387

  Van Hove, Johan L K ^a   Wevers, Ron A ^b   Van Cleemput, Johan ^a   Moerman, Philippe ^a   Sciot, Raf ^a   Matthijs, Gert ^a   Schollen, Els ^a   De Jong, Jan G N ^b   Carey, William F ^c   Muller, Viv ^c   Nicholls, Cath ^c   Perkins, Kelly ^c   Hopwood, John J ^c  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

Adult presentation; Cardio myopathy; Heparan sulphamidase; Muco polysaccharidosis; Sanfilippo syndrome; Storage vacuoles

Indexed keywords

COMPLEMENTARY DNA; ENZYME; HEPARAN SULFAMIDASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BRAIN BIOPSY; CARDIOMYOPATHY; CASE REPORT; CELL CULTURE; CELL VACUOLE; CLINICAL FEATURE; DEATH; DEGENERATIVE DISEASE; DIARRHEA; DISEASE COURSE; ENZYME ACTIVITY; FEMALE; FIBROBLAST; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; HEART ATRIUM FIBRILLATION; HEART MUSCLE BIOPSY; HEART MUSCLE CELL; HEART VENTRICLE HYPERTROPHY; HISTOPATHOLOGY; HUMAN; HYPERTENSION; LEUKOCYTE; MUCOPOLYSACCHARIDOSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; SANFILIPPO SYNDROME; URINALYSIS; UTERUS BIOPSY;

EID: 0042832453     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20068     Document Type: Article

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