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Begreppsinformation

Nutritional and Metabolic Diseases > Metabolic Diseases > Porphyrias

Föredragen term

Porphyrias  

Typ

  • Topical Descriptor

Överordnat begrepp

Underordnade begrepp

Relaterade begrepp

Hänvisningstermer

  • Disorder, Porphyrin
  • Disorders, Porphyrin
  • Porphyria
  • Porphyrin Disorder
  • Porphyrin Disorders

Anmärkning

  • general or unspecified: prefer specifics

Användningsanmärkning

  • A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.

Anmärkning om ändringshistoria

  • 2005 (1963)

Termer på andra språk

URI

http://www.yso.fi/onto/mesh/D011164

Ladda ned detta begrepp:

RDF/XML TURTLE JSON-LD Skapad 1999-01-01, senast editerad 2022-04-11