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  • Adenosine deaminase deficiency in a child : case report from Slovakia = Otrok s pomanjkljivostjo adenozin deaminaze : prikaz primera iz Slovaške
    Čižnár, Peter ...
    Adenosine deaminase deficiency is an autosomal recessive disorder of purine metabolism, which presents as severe combined immunodeficiency. Its estimated incidence is 1 per million, and it represents ... approximately 15% of all severe combined immunodeficiency patients. This defect causes the most profound depletion of T, B, and NK lymphocytes found in any form of severe combined immunodeficiency. The pathogenesis, clinical characteristics, diagnosis and management of adenosine deaminase-deficiency in a 4-month-old girl is described. This is the first case of successful treatment of a severe combinedimmunodeficiency patient by bone marrow transplantation in Slovakia.
    Source: Slovenska pediatrija : revija Združenja pediatrov Slovenije in Združenja specialistov šolske in visokošolske medicine Slovenije. - ISSN 1318-4423 (Letn. 15, [št.] 1, 2008, str. 45-50)
    Type of material - article, component part
    Publish date - 2008
    Language - english
    COBISS.SI-ID - 24522457

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