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    J Inherit Metab Dis. 2002 Sep;25(5):415-6.

    A novel FUCA1 mutation causing fucosidosis in a Chinese boy.

    Ip P, Goh W, Chan KW, Cheung PT.

    Department of Paediatrics, Queen Mary Hospital, The University of Hong Kong, China.

    We report a 6-year-old boy with an intermediate form of fucosidosis.

    PMID: 12408193 [PubMed - indexed for MEDLINE]

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