Beta-mannosidosis

File:Autorecessive.svg

Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency,^[1] is a rare autosomal recessive^[2] form of mannosidosis associated with MANBA.^[3]

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. ISSN 0141-8955. PMID 2079835.
↑ Uchino, Y; Fukushige, T; Yotsumoto, S; Hashiguchi, T; Taguchi, H; Suzuki, N; Konohana, I; Kanzaki, T (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. ISSN 0007-0963. PMID 12890191. Unknown parameter |month= ignored (help)

External links

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[1] Online Mendelian Inheritance in Man (OMIM) 248510

[pmid2079835-2] 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. ISSN 0141-8955. PMID 2079835.

[pmid12890191-3] Uchino, Y; Fukushige, T; Yotsumoto, S; Hashiguchi, T; Taguchi, H; Suzuki, N; Konohana, I; Kanzaki, T (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. ISSN 0007-0963. PMID 12890191. Unknown parameter |month= ignored (help)

[1]

[2]

[3]

Beta-mannosidosis

References

See Also

External links

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