Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene

Annals of Neurology

Volumn 59, Issue 2, 2006, Pages 428-431

  Janson, Christopher G ^a,b,f   Kolodny, Edwin H ^c   Zeng, Bai Jin ^c   Raghavan, Srinivasa ^c   Pastures, Gregory ^c   Torres, Paola ^c   Assadi, Mitra ^a   McPhee, Scott ^a   Goldfarb, Olga ^a   Saslow, Beth ^a   Freese, Andrew ^b   Wang, D J ^d   Bilaniuk, Larissa ^d   Shera, David ^e   Leone, Paola ^a  

^a RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

^c NEW YORK UNIVERSITY   (United States)

^d UNIVERSITY OF PENNSYLVANIA   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f Cell and Gene Therapy Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARTOACYLASE;

ARTICLE; ASPA GENE; BEHAVIOR; CANAVAN DISEASE; COGNITIVE DEFECT; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME STRUCTURE; FEMALE; GAIT; GENE; GENE CONTROL; HEAD MOVEMENT; HETEROZYGOTE; HUMAN; HUMAN CELL; LANGUAGE; MOTOR COORDINATION; MOTOR DEVELOPMENT; MOTOR PERFORMANCE; MUSCLE TONE; ONSET AGE; PATHOPHYSIOLOGY; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SIBLING; STRABISMUS;

ADULT; ALANINE; AMIDOHYDROLASES; ASPARTIC ACID; CANAVAN DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCINE; HUMANS; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; POINT MUTATION; SIBLINGS;

EID: 32044463622     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20787     Document Type: Article

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