"Porphyria, Erythropoietic" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An 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.
- Porphyria, Erythropoietic
- Erythropoietic Porphyrias
- Porphyrias, Erythropoietic
- Erythropoietic Porphyria
- Porphyria, Erythropoietic, Congenital
- Gunther's Disease
- Gunthers Disease
- Porphyria, Congenital Erythropoietic
- Congenital Erythropoietic Porphyria
- Congenital Erythropoietic Porphyrias
- Erythropoietic Porphyria, Congenital
- Erythropoietic Porphyrias, Congenital
- Porphyrias, Congenital Erythropoietic
- Gunther Disease
Below are MeSH descriptors whose meaning is more general than "Porphyria, Erythropoietic".
Below are MeSH descriptors whose meaning is more specific than "Porphyria, Erythropoietic".
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Below are the most recent publications written about "Porphyria, Erythropoietic" by people in Profiles.
Parsons JL, Sahn EE, Holden KR, Pai GS. Neurologic disease in a child with hepatoerythropoietic porphyria. Pediatr Dermatol. 1994 Sep; 11(3):216-21.