Very late-onset Sandhoff disease presenting as Kennedy disease
Muscle Nerve
.
2015 Dec;52(6):1135-6.
doi: 10.1002/mus.24775.
Authors
Jodi Warman Chardon
1
2
3
,
Pierre R Bourque
1
,
Michael T Geraghty
4
5
,
Kym M Boycott
3
5
Affiliations
1
Division of Neurology The Ottawa Hospital, Ottawa, Ontario, Canada.
2
The Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.
3
Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
4
Division of Metabolics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
5
Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
PMID:
26769462
DOI:
10.1002/mus.24775
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Bulbo-Spinal Atrophy, X-Linked / physiopathology*
Hexosaminidases / metabolism
Humans
Male
Middle Aged
Sandhoff Disease / diagnosis*
Substances
Hexosaminidases