The Porphyrias.
J Dtsch Dermatol Ges
; 20(3): 316-331, 2022 Mar.
Article
em 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
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Porfirias
/
Porfiria Cutânea Tardia
/
Porfiria Variegada
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article