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    Results: 1 to 20 of 28

    1.

    High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba.

    Menéndez-Sainz C, González-Quevedo A, González-García S, Peña-Sánchez M, Giugliani R.

    Genet Mol Res. 2012 Aug 13;11(3):2352-9. doi: 10.4238/2012.August.13.9.

    PMID:
    22911605
    [PubMed - indexed for MEDLINE]
    Free Article
    2.

    Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis.

    Yesilipek AM, Akcan M, Karasu G, Uygun V, Kupesiz A, Hazar V.

    Pediatr Transplant. 2012 Nov;16(7):779-82. doi: 10.1111/j.1399-3046.2012.01763.x. Epub 2012 Jul 8.

    PMID:
    22775975
    [PubMed - indexed for MEDLINE]
    3.

    Anesthesia for patients with alpha-mannosidosis--a case series of 10 patients.

    Hallas P, Borgwardt LG, Roed J, Lauritsen T, Dali CI, Lund AM.

    Paediatr Anaesth. 2011 Dec;21(12):1269-70. doi: 10.1111/j.1460-9592.2011.03668.x. No abstract available.

    PMID:
    22023421
    [PubMed - indexed for MEDLINE]
    4.

    Retinal dystrophy in 2 brothers with α-Mannosidosis.

    Courtney RJ, Pennesi ME.

    Arch Ophthalmol. 2011 Jun;129(6):799-802. doi: 10.1001/archophthalmol.2011.134. No abstract available.

    PMID:
    21670350
    [PubMed - indexed for MEDLINE]
    5.

    Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.

    Mynarek M, Tolar J, Albert MH, Escolar ML, Boelens JJ, Cowan MJ, Finnegan N, Glomstein A, Jacobsohn DA, Kühl JS, Yabe H, Kurtzberg J, Malm D, Orchard PJ, Klein C, Lücke T, Sykora KW.

    Bone Marrow Transplant. 2012 Mar;47(3):352-9. doi: 10.1038/bmt.2011.99. Epub 2011 May 9.

    PMID:
    21552297
    [PubMed - indexed for MEDLINE]
    6.

    Proton nuclear magnetic resonance spectroscopic detection of oligomannosidic n glycans in alpha-mannosidosis: a method of monitoring treatment.

    Avenarius DF, Svendsen JS, Malm D.

    J Inherit Metab Dis. 2011 Oct;34(5):1023-7. doi: 10.1007/s10545-011-9331-7. Epub 2011 May 4.

    PMID:
    21541723
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    7.

    Molecular and cellular characterization of novel {alpha}-mannosidosis mutations.

    Kuokkanen E, Riise Stensland HM, Smith W, Kjeldsen Buvang E, Van Nguyen L, Nilssen Ø, Heikinheimo P.

    Hum Mol Genet. 2011 Jul 1;20(13):2651-61. doi: 10.1093/hmg/ddr167. Epub 2011 Apr 19.

    PMID:
    21505070
    [PubMed - indexed for MEDLINE]
    Free Article
    8.

    Clinical utility gene card for: α-mannosidosis.

    Nilssen Ø, Stensland HM, Malm D.

    Eur J Hum Genet. 2011 Jul;19(7). doi: 10.1038/ejhg.2011.5. Epub 2011 Feb 2. No abstract available.

    PMID:
    21368911
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    9.

    Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis.

    Damme M, Stroobants S, Walkley SU, Lüllmann-Rauch R, D'Hooge R, Fogh J, Saftig P, Lübke T, Blanz J.

    J Neuropathol Exp Neurol. 2011 Jan;70(1):83-94. doi: 10.1097/NEN.0b013e31820428fa.

    PMID:
    21157375
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    10.

    Impaired lysosomal trimming of N-linked oligosaccharides leads to hyperglycosylation of native lysosomal proteins in mice with alpha-mannosidosis.

    Damme M, Morelle W, Schmidt B, Andersson C, Fogh J, Michalski JC, Lübke T.

    Mol Cell Biol. 2010 Jan;30(1):273-83. doi: 10.1128/MCB.01143-09. Epub .

    PMID:
    19884343
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Magnetic resonance spectroscopy of the occipital cortex and the cerebellar vermis distinguishes individual cats affected with alpha-mannosidosis from normal cats.

    Magnitsky S, Vite CH, Delikatny EJ, Pickup S, Wehrli S, Wolfe JH, Poptani H.

    NMR Biomed. 2010 Jan;23(1):74-9. doi: 10.1002/nbm.1430.

    PMID:
    19743435
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    12.

    Cemented total hip arthroplasty in a patient with alpha-mannosidosis: a case report.

    Desai AS, Dramis A, Board TN, Kay PR.

    Hip Int. 2009 Apr-Jun;19(2):151-4.

    PMID:
    19462374
    [PubMed - indexed for MEDLINE]
    13.

    Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice.

    Blanz J, Stroobants S, Lüllmann-Rauch R, Morelle W, Lüdemann M, D'Hooge R, Reuterwall H, Michalski JC, Fogh J, Andersson C, Saftig P.

    Hum Mol Genet. 2008 Nov 15;17(22):3437-45. doi: 10.1093/hmg/ddn237. Epub 2008 Aug 19.

    PMID:
    18713755
    [PubMed - indexed for MEDLINE]
    Free Article
    14.

    Alpha-mannosidosis.

    Malm D, Nilssen Ø.

    Orphanet J Rare Dis. 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. Review.

    PMID:
    18651971
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Early onset alpha-mannosidosis with slow progression in three Hispanic males.

    Lyons MJ, Wood T, Espinoza L, Stensland HM, Holden KR.

    Dev Med Child Neurol. 2007 Nov;49(11):854-7. Erratum in: Dev Med Child Neurol. 2008 Jan;50(1):32.

    PMID:
    17979865
    [PubMed - indexed for MEDLINE]
    16.

    Funtional characterization of four novel MAN2B1 mutations causing juvenile onset alpha-mannosidosis.

    Pittis MG, Montalvo AL, Heikinheimo P, Sbaragli M, Balducci C, Persichetti E, Van Maldergem L, Filocamo M, Bembi B, Beccari T.

    Clin Chim Acta. 2007 Jan;375(1-2):136-9. Epub 2006 Jul 6.

    PMID:
    16919251
    [PubMed - indexed for MEDLINE]
    17.

    Enzyme replacement therapy in alpha-mannosidosis guinea-pigs.

    Crawley AC, King B, Berg T, Meikle PJ, Hopwood JJ.

    Mol Genet Metab. 2006 Sep-Oct;89(1-2):48-57. Epub 2006 Jun 27.

    PMID:
    16807033
    [PubMed - indexed for MEDLINE]
    18.

    Psychiatric symptoms in alpha-mannosidosis.

    Malm D, Pantel J, Linaker OM.

    J Intellect Disabil Res. 2005 Nov;49(Pt 11):865-71.

    PMID:
    16207285
    [PubMed - indexed for MEDLINE]
    19.

    Late-onset retinal dystrophy in alpha-mannosidosis.

    Springer C, Gutschalk A, Meinck HM, Rohrschneider K.

    Graefes Arch Clin Exp Ophthalmol. 2005 Dec;243(12):1277-9. Epub 2005 Jun 17.

    PMID:
    16075219
    [PubMed - indexed for MEDLINE]
    20.

    Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis.

    D'Hooge R, Lüllmann-Rauch R, Beckers T, Balschun D, Schwake M, Reiss K, von Figura K, Saftig P.

    J Neurosci. 2005 Jul 13;25(28):6539-49.

    PMID:
    16014715
    [PubMed - indexed for MEDLINE]
    Free Article

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