Sandhoff disease in a golden retriever dog.
A golden retriever dog is described with total hexosaminidase deficiency and raised GM2-ganglioside in CSF. The animal represents a model for human Sandhoff disease.
Yamato
O
O
Department of Veterinary Clinical Sciences, Graduate School of Veterinary Medicine, Hokkaido University, Sapporo, Japan. osam@vetmed.hokudai.ac.jp
Matsuki
N
N
Satoh
H
H
Inaba
M
M
Ono
K
K
Yamasaki
M
M
Maede
Y
Y
D000818:Animals; D001522:Behavior, Animal; D004283:Dog Diseases / Q000235:genetics*; D004285:Dogs; D008247:Lysosomes / Q000201:enzymology; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology / Q000503:physiopathology; D012497:Sandhoff Disease / Q000235:genetics / Q000523:psychology / Q000662:veterinary*; D001619:beta-N-Acetylhexosaminidases / Q000134:cerebrospinal fluid / Q000172:deficiency
D001619:beta-N-Acetylhexosaminidases