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315 documents matched porphyria

Porphyria Overview (Hematology)Porphyria is named from the ancient Greek word porphura, meaning purple.1 Porphyrins are precursors of heme, a part of the hemoglobin molecule. Heme is ...
Porphyria Cutanea Tarda (Dermatology)Porphyria cutanea tarda (PCT) is a term encompassing a group of disorders in which activity of the heme synthetic enzyme uroporphyrinogen decarboxylase ( ...
Porphyria, Acute (Pediatrics: General Medicine)The porphyrias are caused by enzyme deficiencies in the heme production pathway.1 Such deficiencies may be due to inborn errors of metabolism or exposure ...
Variegate Porphyria (Dermatology)Variegate porphyria (VP) is an inherited disorder of porphyrin-heme metabolism arising from mutations of the gene encoding the enzyme protoporphyrinogen ...
Porphyria, Cutaneous (Pediatrics: General Medicine)Porphyria is a predominantly inherited metabolic disorder, resulting from a deficiency of an enzyme in the heme production pathway and overproduction of ...
Diseases of Tetrapyrrole Metabolism - Refsum Disease and the Hepatic Porphyrias (Neurology)Refsum disease and the hepatic porphyrias are rare inherited neurodegenerative conditions with exacerbations and remissions due to abnormal metabolism of ...
ALA Dehydratase Deficiency Porphyria (Hematology)Porphyrias are diseases caused by enzymatic defects in the biosynthetic pathway of heme; sensorimotor neuropathy and cutaneous photosensitivity may ...
Porphyria, Chester (Hematology)Porphyrias are inborn errors of metabolism in which specific enzyme defects exist in the heme synthesis pathway. Chester porphyria is a unique type of ...
Congenital Erythropoietic Porphyria (Dermatology)Erythropoietic porphyria (EP) is a rare inborn error of porphyrin-heme synthesis inherited that is as an autosomal recessive trait. The inheritance of 2 ...
Porphyria, Hereditary Coproporphyria (Hematology)Coproporphyria is one of the porphyrias, a group of diseases that involves defects in heme metabolism and that results in excessive secretion of porphyrins ...

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