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142 related items for PubMed ID: 1861455
1. Complementation studies in human and caprine beta-mannosidosis. Hu P, Wenger DA, van Diggelen OP, Kleijer WJ. J Inherit Metab Dis; 1991; 14(1):13-7. PubMed ID: 1861455 [Abstract] [Full Text] [Related]
2. Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation. Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N, Konohana I, Kanzaki T. Br J Dermatol; 2003 Jul; 149(1):23-9. PubMed ID: 12890191 [Abstract] [Full Text] [Related]
5. Identification of a bovine beta-mannosidosis mutation and detection of two beta-mannosidase pseudogenes. Leipprandt JR, Chen H, Horvath JE, Qiao XT, Jones MZ, Friderici KH. Mamm Genome; 1999 Dec; 10(12):1137-41. PubMed ID: 10594236 [Abstract] [Full Text] [Related]
6. The use of plasma beta-mannosidase activity for the detection of goats heterozygous for beta-mannosidosis. Sewell CA, Healy PJ. Aust Vet J; 1985 Aug; 62(8):286-8. PubMed ID: 4062743 [No Abstract] [Full Text] [Related]
7. Variable clinical presentation of lysosomal beta-mannosidosis in patients with null mutations. Bedilu R, Nummy KA, Cooper A, Wevers R, Smeitink J, Kleijer WJ, Friderici KH. Mol Genet Metab; 2002 Dec; 77(4):282-90. PubMed ID: 12468273 [Abstract] [Full Text] [Related]
8. Mammalian beta-D-mannosidase and beta-mannosidosis. Percheron F, Foglietti MJ, Bernard M, Ricard B. Biochimie; 1992 Jan; 74(1):5-11. PubMed ID: 1576208 [Abstract] [Full Text] [Related]
9. Biochemical and histochemical analysis of lysosomal enzyme activities in caprine beta-mannosidosis. Lovell KL, Kranich RJ, Cavanagh KT. Mol Chem Neuropathol; 1994 Jan; 21(1):61-74. PubMed ID: 8179772 [Abstract] [Full Text] [Related]
10. Purification of feline lysosomal alpha-mannosidase, determination of its cDNA sequence and identification of a mutation causing alpha-mannosidosis in Persian cats. Berg T, Tollersrud OK, Walkley SU, Siegel D, Nilssen O. Biochem J; 1997 Dec 15; 328 ( Pt 3)(Pt 3):863-70. PubMed ID: 9396732 [Abstract] [Full Text] [Related]
11. Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother. Kleijer WJ, Hu P, Thoomes R, Boer M, Huijmans JG, Blom W, Van Diggelen OP, Seemanova E, Macek M. J Inherit Metab Dis; 1990 Dec 15; 13(6):867-72. PubMed ID: 2079835 [Abstract] [Full Text] [Related]
12. alpha-Mannosidosis in the guinea pig: cloning of the lysosomal alpha-mannosidase cDNA and identification of a missense mutation causing alpha-mannosidosis. Berg T, Hopwood JJ. Biochim Biophys Acta; 2002 Mar 16; 1586(2):169-76. PubMed ID: 11959458 [Abstract] [Full Text] [Related]
13. Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis. Leipprandt JR, Kraemer SA, Haithcock BE, Chen H, Dyme JL, Cavanagh KT, Friderici KH, Jones MZ. Genomics; 1996 Oct 01; 37(1):51-6. PubMed ID: 8921369 [Abstract] [Full Text] [Related]
14. beta-Mannosidase in human leukocytes and fibroblasts. Panday RS, van Diggelen OP, Kleijer WJ, Niermeijer MF. J Inherit Metab Dis; 1984 Oct 01; 7(4):155-6. PubMed ID: 6441861 [Abstract] [Full Text] [Related]
15. Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis. Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH. Hum Mol Genet; 1998 Jan 01; 7(1):75-83. PubMed ID: 9384606 [Abstract] [Full Text] [Related]
16. Regional central nervous system oligosaccharide storage in caprine beta-mannosidosis. Boyer PJ, Jones MZ, Rathke EJ, Truscott NK, Lovell KL. J Neurochem; 1990 Aug 01; 55(2):660-4. PubMed ID: 2370553 [Abstract] [Full Text] [Related]
17. Caprine beta-mannosidosis: phenotypic features. Kumar K, Jones MZ, Cunningham JG, Kelley JA, Lovell KL. Vet Rec; 1986 Mar 22; 118(12):325-7. PubMed ID: 2939617 [Abstract] [Full Text] [Related]
19. Characterization of a novel alpha-mannosidosis-causing mutation and its use in leukocyte genotyping after bone marrow transplantation. Frostad Riise HM, Hansen GM, Tollersrud OK, Nilssen O. Hum Genet; 1999 Jan 22; 104(1):106-7. PubMed ID: 10071201 [Abstract] [Full Text] [Related]