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| 1 | Catherine Yang | + 363 word(s) | 363 | 2020-12-15 07:17:30 |
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Yang, C. Beta-Mannosidosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4964 (accessed on 27 September 2026).
Yang C. Beta-Mannosidosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4964. Accessed September 27, 2026.
Yang, Catherine. "Beta-Mannosidosis" Encyclopedia, https://encyclopedia.pub/entry/4964 (accessed September 27, 2026).
Yang, C. (2020, December 24). Beta-Mannosidosis. In Encyclopedia. https://encyclopedia.pub/entry/4964
Yang, Catherine. "Beta-Mannosidosis." Encyclopedia. Web. 24 December, 2020.
Copy Citation
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.
genetic conditions
References
- Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH.Human beta-mannosidase cDNA characterization and first identification of amutation associated with human beta-mannosidosis. Hum Mol Genet. 1998Jan;7(1):75-83.
- Bedilu R, Nummy KA, Cooper A, Wevers R, Smeitink J, Kleijer WJ, Friderici KH. Variable clinical presentation of lysosomal beta-mannosidosis in patients withnull mutations. Mol Genet Metab. 2002 Dec;77(4):282-90.
- Gort L, Duque J, Fabeiro JM, Zulaica A, Coll MJ, Chabás A. Molecular analysis in two beta-mannosidosis patients: description of a new adult case. Mol GenetMetab. 2006 Dec;89(4):398-400.
- Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A. Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol.2007 Sep;57(3):407-12.
- Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N,Konohana I, Kanzaki T. Morphological and biochemical studies of humanbeta-mannosidosis: identification of a novel beta-mannosidase gene mutation. Br JDermatol. 2003 Jul;149(1):23-9.
- Zhu M, Lovell KL, Patterson JS, Saunders TL, Hughes ED, Friderici KH.Beta-mannosidosis mice: a model for the human lysosomal storage disease. Hum Mol Genet. 2006 Feb 1;15(3):493-500.
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