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Article

Further Characterization of the Neuroendocrine Phenotype Associated With the PPOX-Related Variegate Porphyria.

Pediatric neurology - 1 Dec 2023

Assaleh Yousef A, Tabarki Brahim

Abstract excerpt

BACKGROUND: Variegate porphyria is caused by mutations in the PPOX gene; it usually presents in adolescents and adults as an autosomal dominant condition, with cutaneous features or acute peripheral and/or central nervous system crises. A rarer variant, homozygous variegate porphyria, presents in childhood with cutaneous manifestations as well as neurophenotypes. This study sought to further characterize the...

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PMID: 37879139
DOI: 10.1016/j.pediatrneurol.2023.09.008

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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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