Associated Papers
Expanding the Phenotype Spectrum of β-Mannosidosis.
Martin Rios AM et al.
Neurology. Genetics, 2025
Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA.
Katz ML et al.
Gene, 2024
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus.
Gytz H et al.
The Febs Journal, 2019
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Lysosomal storage disease in the brain: mutations of the β-mannosidase gene identified in autosomal dominant nystagmus.
Yu P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.
Huynh T et al.
Bmc Genomics, 2011
A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.
Sabourdy F et al.
Bmc Medical Genetics, 2009
Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.
Riise Stensland HMF et al.
Molecular Genetics and Metabolism, 2008
Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.
Molho-Pessach V et al.
Journal of the American Academy of Dermatology, 2007
Molecular analysis in two beta-mannosidosis patients: description of a new adult case.
Gort L et al.
Molecular Genetics and Metabolism, 2006
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