porphyria

(redirected from congenital erythropoietic porphyria)
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Clinical Laboratory approach in a case of congenital erythropoietic porphyria.
Congenital erythropoietic porphyria (CEP) is one of the rare forms of an intriguing group of metabolic disorders known as porphyria, caused by an autosomal recessive inherited deficiency of the uroporphyrin III cosynthase enzyme.
Differential diagnosis may include hypocalcified form of amelogenesis imperfecta, congenital erythropoietic porphyria, Kostmann's condition (conditions leading to early tooth loss), cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome, tetracycline discoloration and staining of the teeth, vitamin D-dependent and vitamin D-rickets.
Others like congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), and erythropoietic protoporphyria deal with skin photosensitivity (1,3).
Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria.
She has beaten her condition - Congenital Erythropoietic Porphyria, which affects just four people in the UK - and is no longer allergic to light.
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