Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

    Results: 10

    1.

    A comparative structural bioinformatics analysis of inherited mutations in β-D-Mannosidase across multiple species reveals a genotype-phenotype correlation.

    Huynh T, Khan JM, Ranganathan S.

    BMC Genomics. 2011 Nov 30;12 Suppl 3:S22. doi: 10.1186/1471-2164-12-S3-S22. Epub 2011 Nov 30.

    PMID:
    22369051
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    A MANBA mutation resulting in residual beta-mannosidase activity associated with severe leukoencephalopathy: a possible pseudodeficiency variant.

    Sabourdy F, Labauge P, Stensland HM, Nieto M, Garcés VL, Renard D, Castelnovo G, de Champfleur N, Levade T.

    BMC Med Genet. 2009 Sep 3;10:84. doi: 10.1186/1471-2350-10-84.

    PMID:
    19728872
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    3.

    Beta-mannosidosis: a new cause of spinocerebellar ataxia.

    Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T.

    Clin Neurol Neurosurg. 2009 Jan;111(1):109-10. doi: 10.1016/j.clineuro.2008.09.007. Epub 2008 Nov 5.

    PMID:
    18980795
    [PubMed - indexed for MEDLINE]
    4.

    Identification of two novel beta-mannosidosis-associated sequence variants: biochemical analysis of beta-mannosidase (MANBA) missense mutations.

    Riise Stensland HM, Persichetti E, Sorriso C, Hansen GM, Bibi L, Paciotti S, Balducci C, Beccari T.

    Mol Genet Metab. 2008 Aug;94(4):476-80. doi: 10.1016/j.ymgme.2008.04.010. Epub 2008 Jun 18.

    PMID:
    18565776
    [PubMed - indexed for MEDLINE]
    5.

    Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults.

    Sedel F, Baumann N, Turpin JC, Lyon-Caen O, Saudubray JM, Cohen D.

    J Inherit Metab Dis. 2007 Oct;30(5):631-41. Epub 2007 Aug 10. Review.

    PMID:
    17694356
    [PubMed - indexed for MEDLINE]
    6.

    Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation.

    Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A.

    J Am Acad Dermatol. 2007 Sep;57(3):407-12. Epub 2007 Apr 8. Review.

    PMID:
    17420068
    [PubMed - indexed for MEDLINE]
    7.

    Molecular analysis in two beta-mannosidosis patients: description of a new adult case.

    Gort L, Duque J, Fabeiro JM, Zulaica A, Coll MJ, Chabás A.

    Mol Genet Metab. 2006 Dec;89(4):398-400. Epub 2006 Aug 14.

    PMID:
    16904924
    [PubMed - indexed for MEDLINE]
    8.

    Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.

    Sedel F, Friderici K, Nummy K, Caillaud C, Chabli A, Dürr A, Lubetzki C, Agid Y.

    Arch Neurol. 2006 Jan;63(1):129-31.

    PMID:
    16401745
    [PubMed - indexed for MEDLINE]
    9.

    Beta-mannosidosis mice: a model for the human lysosomal storage disease.

    Zhu M, Lovell KL, Patterson JS, Saunders TL, Hughes ED, Friderici KH.

    Hum Mol Genet. 2006 Feb 1;15(3):493-500. Epub 2005 Dec 23.

    PMID:
    16377659
    [PubMed - indexed for MEDLINE]
    Free Article
    10.

    Beta-mannosidosis with angiokeratoma corporis diffusum.

    Suzuki N, Konohana I, Fukushige T, Kanzaki T.

    J Dermatol. 2004 Nov;31(11):931-5.

    PMID:
    15729869
    [PubMed - indexed for MEDLINE]

      Display Settings:

      Format
      Items per page
      Sort by

      Send to:

      Choose Destination

      Supplemental Content

      Find related data

      Search details

      See more...

      Recent activity

      Your browsing activity is empty.

      Activity recording is turned off.

      Turn recording back on

      See more...
      Write to the Help Desk