Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria
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1or congenital erythropoietic porphyria an autosomal recessive abnormality of heme synthesis caused by deficiency of uroporphyrinogen‐III synthase and characterized by excessive amounts of uroporphyrin I and coproporphyrin I in ...
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