• A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases
• A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease)
• Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis
• Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat
• GM2 gangliosidosis AB variant: first case of late onset and review of the literature
• GM2 gangliosidosis in a UK study of children with progressive neurodegeneration: 73 cases reviewed
• GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog
• GM2 gangliosidosis variant 0 (Sandhoff-like disease) in a family of toy poodles
• Nonsense mutation of feline beta-hexosaminidase beta-subunit (HEXB) gene causing Sandhoff disease in a family of Japanese domestic cats
• Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses
• Rapid and simple polymerase chain reaction-based diagnostic assays for GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japanese domestic cats
• Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan
• 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
• Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats
• The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported