Sandhoff disease - A case report of 3 siblings and a review of potential therapies

Annals of the Academy of Medicine Singapore

Volumn 29, Issue 4, 2000, Pages 514-517

  Tay, Stacey K H ^a   Low, P S ^b   Ong, H T ^a   Loke, K Y ^a  

^a NATIONAL UNIVERSITY HOSPITAL   (Singapore)

^b NONE

Author keywords

Autosomal recessive; Bone marrow transplant; Developmental regression; GM2 gangliosidosis; hexosaminidase

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE;

CASE REPORT; CHINA; DEVELOPMENTAL DISORDER; GENE THERAPY; GENETIC COUNSELING; GENETICS; HUMAN; INFANT; MALE; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE; REVIEW; SANDHOFF DISEASE; SEIZURE; SPASTICITY; VISUAL DISORDER;

BETA-N-ACETYLHEXOSAMINIDASE; CHILD, PRESCHOOL; CHINA; DEVELOPMENTAL DISABILITIES; GENE THERAPY; GENES, RECESSIVE; GENETIC COUNSELING; HUMANS; INFANT; MALE; MUSCLE SPASTICITY; PEDIGREE; SANDHOFF DISEASE; SEIZURES; VISION DISORDERS;

EID: 0034231896     PISSN: 03044602     EISSN: 29724066     Source Type: Journal    
DOI: None     Document Type: Article

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