The Porphyrias.
J Dtsch Dermatol Ges
; 20(3): 316-331, 2022 Mar.
Article
en En
| MEDLINE
| ID: mdl-35304965
ABSTRACT
The porphyrias are clinically variable and genetically heterogeneous, predominantly hereditary metabolic diseases, which are caused by a dysfunction of specific enzymes in heme biosynthesis. Here, we provide an overview of the etiopathogenesis, clinic, differential diagnosis, laboratory diagnostics and therapy of these complex metabolic disorders and cover in detail the most common form of porphyria worldwide (porphyria cutanea tarda), the most frequent childhood porphyria (erythropoietic protoporphyria), and the most common neurocutaneous porphyria (variegate porphyria).
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Porfirias
/
Porfiria Cutánea Tardía
/
Porfiria Variegata
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Humans
Idioma:
En
Revista:
J Dtsch Dermatol Ges
Asunto de la revista:
DERMATOLOGIA
Año:
2022
Tipo del documento:
Article
País de afiliación:
Alemania