Congenital erythropoietic porphyria in an Indian Child
Congenital Erythropoetic Porphyria (CEP) also called the “Günther disease”, is a rare variant of porphyria. It is caused by the deficiency of uroporphyrinogen III synthase (URO-III-synthase), an enzyme in the heme biosynthetic pathway. Clinically, CEP presents with blistering over face and extremiti...
Guardado en:
| Autores principales: | , , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Wolters Kluwer Medknow Publications
2019-01-01
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| Colección: | Indian Journal of Paediatric Dermatology |
| Materias: | |
| Acceso en línea: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2019;volume=20;issue=2;spage=141;epage=144;aulast=Singal |
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