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porfýria erytropoetická

  1. Record numberd017092
    Date06.06.2025
    TypeM
    Topical termporfýria erytropoetická
    Other termEnglish (Pseudonym) Deficiency of Uroporphyrinogen III Synthase
    English (Pseudonym) Erythropoietic Porphyria
    English (Pseudonym) Gunther's Disease
    English (Pseudonym) Porphyria, Erythropoietic, Congenital
    English (Pseudonym) Uroporphyrinogen III Synthase, Deficiency of
    Slovak (Pseudonym) porfýria erytropoetická vrodená
    Slovak (Pseudonym) porfýria erytropoetická kongenitálna
    Slovak (Pseudonym) Güntherova choroba
    Slovak (Pseudonym) deficit uroporfyrinogén III syntázy
    See also(Later heading) uroporfyrinogén-III-syntetáza
    (Skutočné meno) uroporfyrinogén-III-syntetáza
    UDCC16.320.850.738C17.800.827.738C18.452.811.250
    NoteAn autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
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Number of the records: 1  

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