PEX6 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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Detalles Bibliográficos
Autores principales: Slanina, Ana-Maria, Coman, Adorata-Elena, Anton-Păduraru, Dana-Teodora, Popa, Elena, Barbacariu, Carmen-Liliana, Novac, Otilia, Petroaie, Antoneta Dacia, Bacușcă, Agnes-Iacinta, Manole, Mihaela, Cosmescu, Adriana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047879/
https://www.ncbi.nlm.nih.gov/pubmed/36980088
http://dx.doi.org/10.3390/children10030530

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047879/
https://www.ncbi.nlm.nih.gov/pubmed/36980088
http://dx.doi.org/10.3390/children10030530

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