These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

177 related items for PubMed ID: 2079835

  • 1. 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; 13(6):867-72. PubMed ID: 2079835
    [Abstract] [Full Text] [Related]

  • 2. Human beta-mannosidase deficiency: biochemical findings in plasma, fibroblasts, white cells and urine.
    Cooper A, Hatton C, Thornley M, Sardharwalla IB.
    J Inherit Metab Dis; 1988; 11(1):17-29. PubMed ID: 3128685
    [Abstract] [Full Text] [Related]

  • 3. Beta-mannosidosis in two brothers with hearing loss.
    Dorland L, Duran M, Hoefnagels FE, Breg JN, Fabery de Jonge H, Cransberg K, van Sprang FJ, van Diggelen OP.
    J Inherit Metab Dis; 1988; 11 Suppl 2():255-8. PubMed ID: 3141715
    [No Abstract] [Full Text] [Related]

  • 4. beta-Mannosidase in human leukocytes and fibroblasts.
    Panday RS, van Diggelen OP, Kleijer WJ, Niermeijer MF.
    J Inherit Metab Dis; 1984; 7(4):155-6. PubMed ID: 6441861
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. Human beta-mannosidosis: a 3-year-old boy with speech impairment and emotional instability.
    Poenaru L, Akli S, Rocchiccioli F, Eydoux P, Zamet P.
    Clin Genet; 1992 Jun; 41(6):331-4. PubMed ID: 1623631
    [Abstract] [Full Text] [Related]

  • 7. Isozyme pattern of leukocyte alpha-D-mannosidase in patients with mannosidosis.
    Kawai H, Yoneda K, Takeda M, Nishida Y, Nishino H, Masuda K, Saito S.
    Jinrui Idengaku Zasshi; 1988 Mar; 33(1):1-7. PubMed ID: 3392840
    [No Abstract] [Full Text] [Related]

  • 8. A human lysosomal alpha(1----6)-mannosidase active on the branched trimannosyl core of complex glycans.
    Daniel PF, Evans JE, De Gasperi R, Winchester B, Warren CD.
    Glycobiology; 1992 Aug; 2(4):327-36. PubMed ID: 1421754
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Beta-mannosidosis: prenatal biochemical and morphological characteristics.
    Jones MZ, Rathke EJ, Cavanagh K, Hancock LW.
    J Inherit Metab Dis; 1984 Aug; 7(2):80-5. PubMed ID: 6434833
    [Abstract] [Full Text] [Related]

  • 11. 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; 104(1):106-7. PubMed ID: 10071201
    [Abstract] [Full Text] [Related]

  • 12. Diagnosis of alpha-mannosidosis by measuring alpha-mannosidase in plasma.
    Prence EM, Natowicz MR.
    Clin Chem; 1992 Apr; 38(4):501-3. PubMed ID: 1568314
    [Abstract] [Full Text] [Related]

  • 13. Inheritance of beta-mannosidosis in goats.
    Fisher RA, Rathke EJ, Kelley JA, Dunstan RW, Cavanagh K, Jones MZ.
    Anim Genet; 1986 Apr; 17(2):183-90. PubMed ID: 3740554
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Accumulation of mannosyl-beta(1----4)-N-acetylglucosamine in fibroblasts and leukocytes of patients with a deficiency of beta-mannosidase.
    van Pelt J, Hokke CH, Dorland L, Duran M, Kamerling JP, Vliegenthart JF.
    Clin Chim Acta; 1990 Jan 31; 187(1):55-60. PubMed ID: 2317928
    [Abstract] [Full Text] [Related]

  • 17. [Mannosidosis. Clinical and enzymatic studies in a family].
    Pascual-Castroviejo I, Chabas A, de la Cruz M, Verdú A, Roche C.
    Neurologia; 1986 Jan 31; 1(2):58-62. PubMed ID: 3079111
    [No Abstract] [Full Text] [Related]

  • 18. beta-mannosidase deficiency in a female infant with epileptic encephalopathy.
    Cooper A, Wraith JE, Savage WJ, Thornley M, Noronha MJ.
    J Inherit Metab Dis; 1991 Jan 31; 14(1):18-22. PubMed ID: 1861456
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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]

    Page: [Next] [New Search]
    of 9.