Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype

Journal of Inherited Metabolic Disease

Volumn 33, Issue 6, 2010, Pages 759-767

  Valstar, Marlies J ^a   Bruggenwirth, Hennie T ^b   Olmer, Renske ^b   Wevers, Ron A ^c   Verheijen, Frans W ^b   Poorthuis, Ben J ^a   Halley, Dicky J ^b   Wijburg, Frits A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE; CYSTEINE; GLYCINE; LYSINE; VALINE;

ADOLESCENT; ADULT; AGED; ARTICLE; BEHAVIOR DISORDER; CAUSE OF DEATH; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPSY; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEARING DISORDER; HUMAN; HUMAN CELL; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MEDICAL INFORMATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; ONSET AGE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; SANFILIPPO SYNDROME; SCHOOL CHILD; SLEEP DISORDER; VISUAL DISORDER; ALGORITHM; CELL CULTURE; CLASSIFICATION; CLINICAL TRIAL; DELIVERY; DIFFERENTIAL DIAGNOSIS; METHODOLOGY; MORTALITY; MULTICENTER STUDY; PHENOTYPE; PREGNANCY; REGISTER; SANFILIPPO SYNDROME TYPE B; STATISTICS;

ALGORITHMS; CAUSE OF DEATH; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DELIVERY, OBSTETRIC; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; MALE; MUCOPOLYSACCHARIDOSIS III; PHENOTYPE; PREGNANCY; REGISTRIES;

EID: 79952557240     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-010-9199-y     Document Type: Article

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