Associated Papers
Expanding the Phenotype Spectrum of β-Mannosidosis.
Martin Rios AM et al.
Neurology. Genetics, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
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
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
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
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