Beta-mannosidosis
From Wikipedia, the free encyclopedia
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency,[1] is a rare autosomal recessive[2] form of mannosidosis associated with MANBA.[3]
Beta-mannosidosis has an autosomal recessive pattern of
inheritance.
[edit] References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 248510
- ^ Kleijer, Wj; Hu, P; Thoomes, R; Boer, M; Huijmans, Jg; Blom, W; Van, Diggelen, Op; Seemanova, E; Macek, M (1990). "Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother". Journal of inherited metabolic disease 13 (6): 867–72. doi:10.1007/BF01800211. PMID 2079835.
- ^ Uchino, Y; Fukushige, T; Yotsumoto, S; Hashiguchi, T; Taguchi, H; Suzuki, N; Konohana, I; Kanzaki, T (July 2003). "Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation". The British journal of dermatology 149 (1): 23–9. doi:10.1046/j.1365-2133.2003.05365.x. PMID 12890191.
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