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195 related items for PubMed ID: 9758606

  • 1. 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]

  • 2. 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; 64(1):77-88. PubMed ID: 9915946
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.
    Hansen G, Berg T, Riise Stensland HM, Heikinheimo P, Klenow H, Evjen G, Nilssen Ø, Tollersrud OK.
    Biochem J; 2004 Jul 15; 381(Pt 2):537-46. PubMed ID: 15035660
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 77(4):282-90. PubMed ID: 12468273
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings.
    Nilssen O, Berg T, Riise HM, Ramachandran U, Evjen G, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK.
    Hum Mol Genet; 1997 May 16; 6(5):717-26. PubMed ID: 9158146
    [Abstract] [Full Text] [Related]

  • 8. 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 May 16; 63(3):279-82. PubMed ID: 9491457
    [Abstract] [Full Text] [Related]

  • 9. 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 16; 149(1):23-9. PubMed ID: 12890191
    [Abstract] [Full Text] [Related]

  • 10. Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA.
    Nebes VL, Schmidt MC.
    Biochem Biophys Res Commun; 1994 Apr 15; 200(1):239-45. PubMed ID: 8166692
    [Abstract] [Full Text] [Related]

  • 11. Genomic structure of the human lysosomal alpha-mannosidase gene (MANB).
    Riise HM, Berg T, Nilssen O, Romeo G, Tollersrud OK, Ceccherini I.
    Genomics; 1997 Jun 01; 42(2):200-7. PubMed ID: 9192839
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 8(8):1365-72. PubMed ID: 10400983
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Expression of human lysosomal alpha-mannosidase activity in transfected murine cells and human alpha-mannosidase deficient fibroblasts.
    Wang W, Nebes VL, Schmidt MC, Barranger JA.
    Biochem Biophys Res Commun; 1996 Jul 25; 224(3):619-24. PubMed ID: 8713098
    [Abstract] [Full Text] [Related]

  • 15. 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 25; 104(1):106-7. PubMed ID: 10071201
    [Abstract] [Full Text] [Related]

  • 16. Isolation and characterization of the gene encoding the mouse broad specificity lysosomal alpha-mannosidase1.
    Gonzalez DS, Kagawa Y, Moremen KW.
    Biochim Biophys Acta; 1999 Apr 14; 1445(1):177-83. PubMed ID: 10209272
    [Abstract] [Full Text] [Related]

  • 17. Purification of bovine lysosomal alpha-mannosidase, characterization of its gene and determination of two mutations that cause alpha-mannosidosis.
    Tollersrud OK, Berg T, Healy P, Evjen G, Ramachandran U, Nilssen O.
    Eur J Biochem; 1997 Jun 01; 246(2):410-9. PubMed ID: 9208932
    [Abstract] [Full Text] [Related]

  • 18. Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation.
    Wu X, Pan J, Guo Y, Guo C, Jiang W, Li R, Tang J, Ai Y.
    J Pediatr Endocrinol Metab; 2014 May 01; 27(5-6):491-5. PubMed ID: 24353136
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.
    Riise Stensland HMF, Persichetti E, Sorriso C, Hansen GM, Bibi L, Paciotti S, Balducci C, Beccari T.
    Mol Genet Metab; 2008 Aug 02; 94(4):476-480. PubMed ID: 18565776
    [Abstract] [Full Text] [Related]

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