Condition: beta-Mannosidosis


rs1188116333 in MANBA gene and beta-Mannosidosis PMID 12468273 2002 Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations.

PMID 12890191 2003 Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation.

PMID 16904924 2006 Molecular analysis in two beta-mannosidosis patients: description of a new adult case.

PMID 18565776 2008 Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.

PMID 9384606 1998 Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis.

PMID 30552791 2019 The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus.

PMID 22369051 2011 A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.

PMID 17420068 2007 Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.

PMID 19728872 2009 A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

PMID 30872814 2019 Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma.