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glukóza-6-fosfátdehydrogenáza

  1. Record numberd005954
    Date06.06.2025
    TypeM - MESH
    Topical termglukóza-6-fosfátdehydrogenáza
    Other termEnglish (Pseudonym) Glucose-6-Phosphate Dehydrogenase
    Slovak (Pseudonym) G-6-PDH
    UDCD08.811.682.047.150.300
    NoteAn autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood.
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Number of the records: 1  

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