<i>PEX6</i> Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review

<i>PEX6</i> Mutation in a Child with Infantile Refsum Disease—A Case Report and Literature Review

The aim of this paper is to describe the temporal progression and clinical picture of a 2-year-old child with infantile Refsum disease, as well as the diagnostic procedures performed; this case presented multiple hematologic, metabolic, and developmental complications and progressive disabilities. G...

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Bibliographic Details
Main Authors: Ana-Maria Slanina, Adorata-Elena Coman, Dana-Teodora Anton-Păduraru, Elena Popa, Carmen-Liliana Barbacariu, Otilia Novac, Antoneta Dacia Petroaie, Agnes-Iacinta Bacușcă, Mihaela Manole, Adriana Cosmescu
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Children
Subjects:
infantile Refsum disease
<i>PEX6</i> mutation
peroxisome biogenesis disorder
metabolic anomalies
Online Access:https://www.mdpi.com/2227-9067/10/3/530

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https://www.mdpi.com/2227-9067/10/3/530

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