Associated Papers
Molecular Screening of Feline Glycogen Storage Disease Type II (Pompe Disease): Allele Frequencies of the GAA:c.1799G>A and c.55G>A Variants.
Faruq AA et al.
Genes, 2025
Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.
Boeykens F et al.
Frontiers in Veterinary Science, 2024
39703406 (PubMed )
Supplement: Table_1.XLSX › Sheet1
DNA mutations of the cat: the good, the bad and the ugly.
Lyons LA
Journal of Feline Medicine and Surgery, 2015
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.
Hasegawa D et al.
Plos One, 2013
A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease).
Rahman MM et al.
Veterinary Journal (london, England : 1997), 2012
Feline genetics: clinical applications and genetic testing.
Lyons LA
Topics in Companion Animal Medicine, 2010
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population.
Yamato O et al.
The Journal of Veterinary Medical Science, 2008
Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat.
Hasegawa D et al.
Journal of Feline Medicine and Surgery, 2007
Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats.
Kanae Y et al.
Research in Veterinary Science, 2007
GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.
Yamato O et al.
The Veterinary Record, 2004
DNA testing in neurologic diseases.
O'Brien DP et al.
Journal of Veterinary Internal Medicine, 0
Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats.
Yu Y et al.
Jfms Open Reports, 0
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