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

• Main Authors: Ana-Maria Slanina (Author), Adorata-Elena Coman (Author), Dana-Teodora (Author), Elena Popa (Author), Carmen-Liliana Barbacariu (Author), Otilia Novac (Author), Antoneta Dacia Petroaie (Author), Agnes-Iacinta Bacușcă (Author), Mihaela Manole (Author), Adriana Cosmescu (Author)
• Format: Book
• Published: MDPI AG, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...