Neurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review

Abstract Background Genetic porphyrias, namely in their homozygous form, may cause a neurodevelopmental disorder which may even be the clinically dominant feature. But few cases have been described so far. The majority of neurodevelopmental disorders has a genetic cause and there is a big overlap of...

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Hlavní autoři:	Nadja Kaiser, Janine Magg, Thomas Nägele, Nicole Wolf, Ingeborg Krägeloh-Mann
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2025-03-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Developmental delay Childhood epilepsy Hypomyelination Skin lesions Variegate porphyria
On-line přístup:	https://doi.org/10.1186/s13023-025-03606-6
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