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24. Targeted disruption of the lysosomal alpha-mannosidase gene results in mice resembling a mild form of human alpha-mannosidosis. Stinchi S, Lüllmann-Rauch R, Hartmann D, Coenen R, Beccari T, Orlacchio A, von Figura K, Saftig P. Hum Mol Genet; 1999 Aug; 8(8):1365-72. PubMed ID: 10400983 [Abstract] [Full Text] [Related]
25. Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T. Am J Hum Genet; 1998 Oct; 63(4):1015-24. PubMed ID: 9758606 [Abstract] [Full Text] [Related]
26. Biochemical and morphological expression of early prenatal caprine beta-mannosidosis. Lovell KL, Matsuura F, Patterson J, Baeverfjord G, Ames NK, Jones MZ. Prenat Diagn; 1997 Jun; 17(6):551-7. PubMed ID: 9203214 [Abstract] [Full Text] [Related]
28. Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. Shows TB, Mueller OT, Honey NK, Wright CE, Miller AL. Am J Med Genet; 1982 Jul; 12(3):343-53. PubMed ID: 6287841 [Abstract] [Full Text] [Related]
29. Molecular heterogeneity for bovine alpha-mannosidosis: PCR based assays for detection of breed-specific mutations. Berg T, Healy PJ, Tollersrud OK, Nilssen O. Res Vet Sci; 1997 Jul; 63(3):279-82. PubMed ID: 9491457 [Abstract] [Full Text] [Related]
30. Human chorionic beta-mannosidase: comparison with beta-mannosidase from human cultured fibroblasts. Petushkova NA, Ivleva TS, Vozniy YaM. Prenat Diagn; 1992 Oct; 12(10):835-9. PubMed ID: 1475253 [Abstract] [Full Text] [Related]
31. Clinical and biochemical analysis of two families with type I and type II mannosidosis. Bennet JK, Dembure PP, Elsas LJ. Am J Med Genet; 1995 Jan 02; 55(1):21-6. PubMed ID: 7702090 [Abstract] [Full Text] [Related]
32. Recent progress in lysosomal alpha-mannosidase and its deficiency. Sun H, Wolfe JH. Exp Mol Med; 2001 Mar 31; 33(1):1-7. PubMed ID: 11322479 [Abstract] [Full Text] [Related]
33. Caprine alpha- and beta-mannosidase activities: effects of age, sex, and reproductive status and potential use in heterozygote detection of beta-mannosidosis. Dunstan RW, Cavanagh K, Jones MZ. Am J Vet Res; 1983 Apr 31; 44(4):685-9. PubMed ID: 6869966 [Abstract] [Full Text] [Related]
34. Synthesis of lysosomal alpha-mannosidase in normal and mannosidosis fibroblasts. Pohlmann R, Hasilik A, Cheng S, Pemble S, Winchester B, von Figura K. Biochem Biophys Res Commun; 1983 Sep 30; 115(3):1083-9. PubMed ID: 6626219 [Abstract] [Full Text] [Related]
35. Alpha-mannosidosis and mutational analysis in a Turkish patient. Olmez A, Nilssen O, Coşkun T, Klenow H. Turk J Pediatr; 2003 Sep 30; 45(1):46-50. PubMed ID: 12718372 [Abstract] [Full Text] [Related]
36. Caprine beta-D-mannosidosis: characterization of a model lysosomal storage disorder. Pearce RD, Callahan JW, Little PB, Klunder LR, Clarke JT. Can J Vet Res; 1990 Jan 30; 54(1):22-9. PubMed ID: 2306674 [Abstract] [Full Text] [Related]
37. Spectrum of mutations in alpha-mannosidosis. Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O. Am J Hum Genet; 1999 Jan 30; 64(1):77-88. PubMed ID: 9915946 [Abstract] [Full Text] [Related]
38. Human beta-mannosidase deficiency associated with peripheral neuropathy. Levade T, Graber D, Flurin V, Delisle MB, Pieraggi MT, Testut MF, Carrière JP, Salvayre R. Ann Neurol; 1994 Jan 30; 35(1):116-9. PubMed ID: 8285582 [Abstract] [Full Text] [Related]
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40. Caprine beta-mannosidosis. Inherited deficiency of beta-D-mannosidase. Jones MZ, Dawson G. J Biol Chem; 1981 May 25; 256(10):5185-8. PubMed ID: 7228876 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]