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1.
J Am Vet Med Assoc ; 221(2): 277-9, 240, 2002 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-12118595

RESUMO

Bovine congenital erythropoietic protoporphyria is an uncommon genetic defect in Limousin and Blonde d'Aquitaine cattle that is characterized by severe photosensitization. Clinical signs include intense pruritus and exudative dermatitis involving the face, pinnae, and dorsal aspect of the thorax. Affected cattle have hematologic and serum biochemical values within reference ranges, and their teeth are normochromic. Definitive diagnosis of bovine congenital erythropoietic protoporphyria is accomplished by genetic testing. Affected cattle should be sent to a terminal market.


Assuntos
Doenças dos Bovinos/congênito , Porfiria Hepatoeritropoética/veterinária , Protoporfirinas/sangue , Animais , Cruzamento , Bovinos , Doenças dos Bovinos/sangue , Doenças dos Bovinos/genética , Hematócrito/veterinária , Porfiria Hepatoeritropoética/sangue , Porfiria Hepatoeritropoética/congênito , Porfiria Hepatoeritropoética/genética
2.
J Intern Med ; 247(2): 169-78, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10692079

RESUMO

The porphyrias are diseases due to marked deficiencies of enzymes of the haem biosynthetic pathway (Fig. 1). Except for the first enzyme of the pathway, delta-aminolevulinate synthase (ALAS), deficiencies in seven other enzymes are associated with the various forms of porphyria (Fig. 2). Porphyrias can be classified as either hepatic or erythroid, depending on the major site of production of porphyrins or their precursors. The pathogenesis of all inherited porphyrias has now been defined at the molecular level, and it is clear that there is a great deal of genetic heterogeneity in each porphyria [1].


Assuntos
Porfirias/enzimologia , Porfirias/genética , Eritrócitos/metabolismo , Humanos , Mutação , Sintase do Porfobilinogênio/deficiência , Porfiria Cutânea Tardia/enzimologia , Porfiria Cutânea Tardia/genética , Porfiria Aguda Intermitente/enzimologia , Porfiria Aguda Intermitente/genética , Porfiria Eritropoética/enzimologia , Porfiria Eritropoética/genética , Porfiria Hepatoeritropoética/congênito , Porfiria Hepatoeritropoética/enzimologia , Porfiria Hepatoeritropoética/genética , Porfirias/metabolismo , Porfirias Hepáticas/enzimologia , Porfirias Hepáticas/genética , Porfirinas/química
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