The very first description of a patient with hepatoerythropoietic porphyria in Argentina. Biochemical and Molecular Studies

Hepatoerythropoietic Porphyria (HEP) is the rare homozygous form of Porphyria Cutanea Tarda (PCT). It is characterized clinically by the early onset of severe skin manifestations which can be confused with Congenital Erythropoietic Porphyria (CEP) or with PCT when the symptoms are mild. We describe...

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Detalles Bibliográficos
Autores principales: Granata, Bárbara Xoana, Parera, Victoria Estela, Teijo, María Julieta, Batlle, Alcira María del Carmen, Rossetti, María Victoria
Publicado: 2009
Materias:
Compound heterozygous
Hepatoerythropoietic porphyria
Mutations
Uroporphyrinogen decarboxylase
magnesium ion
uroporphyrinogen decarboxylase
adolescent
anamnesis
Argentina
article
case report
chemical analysis
clinical feature
congenital erythropoietic porphyria
enzyme activity
enzyme assay
exon
genetic analysis
hepatoerythropoietic porphyria
heterozygosity
heterozygote detection
human
male
molecular biology
point mutation
porphyria cutanea tarda
skin manifestation
Adolescent
DNA Mutational Analysis
Humans
Male
Polymerase Chain Reaction
Porphyria, Hepatoerythropoietic
Uroporphyrinogen Decarboxylase
Acceso en línea:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_01455680_v55_n1_p61_Granata
http://hdl.handle.net/20.500.12110/paper_01455680_v55_n1_p61_Granata
Aporte de:
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) de Universidad de Buenos Aires

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