Title : Coexistence of deficiencies of uroporphyrinogen III synthase and decarboxylase in a patient with congenital erythropoietic porphyria and in his family.

Pub. Date : 1997 Jan

PMID : 9156565






1 Functional Relationships(s)
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1 Although urinary porphyrin excretions of relatives were in the physiological range, the proportion of coproporphyrin isomer I showed a relative increase, which can serve as a biochemical indicator for heterozygous uroporphyrinogen III synthase gene carriers. Coproporphyrins uroporphyrinogen III synthase Homo sapiens