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References

These sources were used to develop the Genetics Home Reference condition summary on alpha-mannosidosis.

Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O. Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet. 1999 Jan;64(1):77-88. PubMed citation
Gene Review: Alpha-Mannosidosis
Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Am J Hum Genet. 1998 Oct;63(4):1015-24. PubMed citation
Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C. Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr. 2004 May;144(5):569-73. PubMed citation
Gutschalk A, Harting I, Cantz M, Springer C, Rohrschneider K, Meinck HM. Adult alpha-mannosidosis: clinical progression in the absence of demyelination. Neurology. 2004 Nov 9;63(9):1744-6. PubMed citation
Hansen G, Berg T, Riise Stensland HM, Heikinheimo P, Klenow H, Evjen G, Nilssen Ų, Tollersrud OK. Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants. Biochem J. 2004 Jul 15;381(Pt 2):537-46. PubMed citation
Lyons MJ, Wood T, Espinoza L, Stensland HM, Holden KR. Early onset alpha-mannosidosis with slow progression in three Hispanic males. Dev Med Child Neurol. 2007 Nov;49(11):854-7. Erratum in: Dev Med Child Neurol. 2008 Jan;50(1):32. PubMed citation
Malm D, Pantel J, Linaker OM. Psychiatric symptoms in alpha-mannosidosis. J Intellect Disabil Res. 2005 Nov;49(Pt 11):865-71. PubMed citation
OMIM: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T. Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis. Clin Chim Acta. 2007 Jan;375(1-2):136-9. Epub 2006 Jul 6. PubMed citation
Sbaragli M, Bibi L, Pittis MG, Balducci C, Heikinheimo P, Ricci R, Antuzzi D, Parini R, Spaccini L, Bembi B, Beccari T. Identification and characterization of five novel MAN2B1 mutations in Italian patients with alpha-mannosidosis. Hum Mutat. 2005 Mar;25(3):320. PubMed citation
Sun H, Wolfe JH. Recent progress in lysosomal alpha-mannosidase and its deficiency. Exp Mol Med. 2001 Mar 31;33(1):1-7. Review. PubMed citation


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