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    Hum Genet. 2000 Sep;107(3):285-9.

    Mutation analysis in glycogen storage disease type 1 non-a.

    Janecke AR, Lindner M, Erdel M, Mayatepek E, Möslinger D, Podskarbi T, Fresser F, Stöckler-Ipsiroglu S, Hoffmann GF, Utermann G.

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    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria. Andreas.Janecke@uibk.ac.at

    Abstract

    We report molecular and clinical findings in 13 patients with rare types of glycogen storage disease 1 (GSD1 non-a). Analysis of G6PT encoding a microsomal transporter protein has revealed mutations on both chromosomes in each case, four of which are novel. Diagnosis has been confirmed in three patients suspected of having GSD1 non-a without enzymatic studies involving liver biopsy, thus emphasising the advantage of G6PT mutation analysis for all GSD1 non-a patients.

    PMID:
    11071391
    [PubMed - indexed for MEDLINE]

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