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Article

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2020

Belohlavkova Anezka, Sterbova Katalin, Betzler Cornelia, Burkhard Stuve, Panzer Axel, Wolff Markus, Lassuthova Petra, Vlckova Marketa, Kyncl Martin, Benova Barbora, Jahodova Alena, Kudr Martin, Goerg Maria, Dusek Petr, Seeman Pavel, Kluger Gerhard, Krsek Pavel

Abstract excerpt

BACKGROUND: Neurodegeneration with brain iron accumulation constitutes a group of rare progressive movement disorders sharing intellectual disability and neuroimaging findings as common denominators. Beta-propeller protein-associated neurodegeneration (BPAN) represents approximately 7% of the cases, and its first signs are typically epilepsy and developmental delay. We aimed to describe in detail the phenotype of...

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Identifiers

PMID: 32811771
DOI: 10.1016/j.ejpn.2020.07.010

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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