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Article

Acute intermittent porphyria in Argentina: an update.

BioMed research international - 1 Jan 2015

Cerbino Gabriela Nora, Gerez Esther Noemí, Varela Laura Sabina, Melito Viviana Alicia, Parera Victoria Estela, Batlle Alcira, Rossetti María Victoria

Abstract excerpt

Porphyrias are a group of metabolic diseases that arise from deficiencies in the heme biosynthetic pathway. A partial deficiency in hydroxymethylbilane synthase (HMBS) produces a hepatic disorder named Acute Intermittent Porphyria (AIP); the acute porphyria is more frequent in Argentina. In this paper we review the results obtained for 101 Argentinean AIP families and 6 AIP families from foreign neighbour...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26075277
DOI: 10.1155/2015/946387
PMCID: PMC4449928

Genes

AIP
HMBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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