POR : KMLE 의학 검색 엔진 - 의학사전, 의학용어, 의학약어, 의학논문, 약품/의약품 검색

MeSH(Medical Subject Headings) 맞춤 검색 (http://www.nlm.nih.gov) 결과 : 5 페이지: 4

Porphyria Cutanea Tarda - 새창 An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.
Synonyms :
Porphyria, Acute Intermittent - 새창 An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Synonyms : Acute Porphyria, Acute Intermittent Porphyria, Acute Intermittent Porphyrias, Acute Porphyrias, Intermittent Porphyria, Acute, Intermittent Porphyrias, Acute, Porphyria, Acute, Porphyrias, Acute, Porphyrias, Acute Intermittent
Porphyria, Erythropoietic - 새창 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.
Synonyms : Congenital Erythropoietic Porphyria, Gunther Disease, Congenital Erythropoietic Porphyrias, Disease, Gunther, Disease, Gunther's, Erythropoietic Porphyria, Congenital, Erythropoietic Porphyrias, Erythropoietic Porphyrias, Congenital, Gunthers Disease
Porphyria, Hepatoerythropoietic - 새창 An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating.
Synonyms : Erythrohepatic Porphyria, Erythrohepatic Porphyrias, Hepatoerythropoietic Porphyrias, Porphyrias, Erythrohepatic, Porphyrias, Hepatoerythropoietic
Porphyria, Variegate - 새창 An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.
Synonyms : Protoporphyrinogen Oxidase Deficiency, Variegate Porphyria, Deficiencies, Protoporphyrinogen Oxidase