Substrate reduction therapy in juvenile GM2 gangliosidosis

Molecular Genetics and Metabolism

Volumn 98, Issue 1-2, 2009, Pages 215-224

  Maegawa, Gustavo H B ^a,b,c   Banwell, Brenda L ^a,b,c   Blaser, Susan ^a,c   Sorge, Geoffrey ^d   Toplak, Maggie ^d   Ackerley, Cameron ^a,b   Hawkins, Cynthia ^a,b,c   Hayes, Jason ^a,c   Clarke, Joe T R ^a,b,c,e  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^c UNIVERSITY OF TORONTO   (Canada)

^d York University   (Canada)

^e CENTRE HOSPITALIER UNIVERSITAIRE DE SHERBROOKE   (Canada)

Author keywords

Juvenile GM2 gangliosidosis; Miglustat; Sandhoff disease; Substrate reduction therapy; Tay Sachs disease

Indexed keywords

MIGLUSTAT;

ACUTE PSYCHOSIS; ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; CELL INCLUSION; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; COGNITION; COGNITIVE DEFECT; COORDINATION DISORDER; DETERIORATION; DIARRHEA; DISEASE EXACERBATION; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; ELECTROPHYSIOLOGY; EPILEPSY; FECES INCONTINENCE; FEMALE; GAIT DISORDER; GASTROINTESTINAL SYMPTOM; GM2 GANGLIOSIDOSIS; HUMAN; HUMAN CELL; MALE; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TEST; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT CARE; PATIENT COMPLIANCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; RELIABILITY; SCHOOL CHILD; SPEECH DISORDER; SUBSTRATE REDUCTION THERAPY; TRANSMISSION ELECTRON MICROSCOPY; TREATMENT OUTCOME; WHITE MATTER;

1-DEOXYNOJIRIMYCIN; ADOLESCENT; ADULT; BRAIN MAPPING; CHILD; ELECTROPHYSIOLOGICAL PHENOMENA; ENZYME INHIBITORS; FEMALE; GANGLIOSIDOSES, GM2; HUMANS; INCLUSION BODIES; LEUKOCYTES, MONONUCLEAR; MAGNETIC RESONANCE IMAGING; MALE; NEUROLOGIC EXAMINATION; NEUROPSYCHOLOGICAL TESTS; SUBSTRATE SPECIFICITY; TREATMENT OUTCOME;

EID: 67651232532     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2009.06.005     Document Type: Article

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