An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)

Molecular Genetics and Metabolism

Volumn 102, Issue 1, 2011, Pages 6-12

  Clarke, Joe T R ^a   Mahuran, Don J ^a   Sathe, Swati ^b   Kolodny, Edwin H ^b   Rigat, Brigitte A ^a   Raiman, Julian A ^a   Tropak, Michael B ^a  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

GM2 gangliosidosis; Pharmacologic chaperone; Pyrimethamine

Indexed keywords

BETA GLUCURONIDASE; BETA N ACETYLHEXOSAMINIDASE A; PYRIMETHAMINE;

ABDOMINAL DISCOMFORT; ADULT; AMENORRHEA; ANOREXIA; ARTICLE; ATAXIA; CLINICAL ARTICLE; CLINICAL ASSESSMENT; COORDINATION DISORDER; DRUG BLOOD LEVEL; DRUG DOSE ESCALATION; DRUG EFFICACY; DRUG TOLERABILITY; DRUG WITHDRAWAL; ENZYME ACTIVITY; EPILEPTIC STATE; FEMALE; GENE MUTATION; HUMAN; LEUKOCYTE; MALE; NAUSEA; PHASE 1 CLINICAL TRIAL; PHASE 2 CLINICAL TRIAL; PRIORITY JOURNAL; SANDHOFF DISEASE; TAY SACHS DISEASE;

ADULT; BETA-GALACTOSIDASE; ENZYME ASSAYS; FEMALE; GANGLIOSIDOSES, GM2; GLUCOSYLCERAMIDASE; HEXOSAMINIDASE A; HEXOSAMINIDASE B; HUMANS; MALE; MIDDLE AGED; PYRIMETHAMINE; YOUNG ADULT;

EID: 78650917056     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.09.004     Document Type: Article

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