Enzyme replacement therapy attenuates disease progression in two Japanese siblings with mucopolysaccharidosis type VI

Molecular Genetics and Metabolism

Volumn 104, Issue 4, 2011, Pages 597-602

  Furujo, Mahoko ^a   Kubo, Toshihide ^a   Kosuga, Motomichi ^b   Okuyama, Torayuki ^b  

^a NATIONAL HOSPITAL ORGANIZATION OKAYAMA MEDICAL CENTER   (Japan)

^b NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

Enzyme replacement therapy (ERT); Galsulfase; Glycosaminoglycan (GAG); Mucopolysaccharidosis type VI (MPS VI); N Acetylgalactosamine 4 sulfatase (ASB)

Indexed keywords

GALSULFASE; URONIC ACID;

ARTICLE; CASE REPORT; CATARACT; CHILD; DISEASE COURSE; DYSOSTOSIS; EARLY DIAGNOSIS; EARLY INTERVENTION; ENZYME ACTIVITY; ENZYME REPLACEMENT; FACE DYSMORPHIA; FEMALE; FOLLOW UP; GLAUCOMA; HEARING IMPAIRMENT; HEART FUNCTION; HEPATOSPLENOMEGALY; HUMAN; JAPANESE; MALE; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; ONSET AGE; OTITIS MEDIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RANGE OF MOTION; SHORT STATURE; SHOULDER; SIBLING; SKELETON MALFORMATION; TREATMENT DURATION; TRICUSPID VALVE REGURGITATION; URINALYSIS;

CHILD, PRESCHOOL; CONSANGUINITY; ENZYME REPLACEMENT THERAPY; FEMALE; GROWTH CHARTS; HAND BONES; HOMOZYGOTE; HUMANS; JAPAN; MALE; MUCOPOLYSACCHARIDOSIS IV; MUTATION, MISSENSE; N-ACETYLGALACTOSAMINE-4-SULFATASE; RECOMBINANT PROTEINS; SPINE; TREATMENT OUTCOME; URONIC ACIDS;

EID: 82255179466     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.08.029     Document Type: Article

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