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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
MDPI
2023
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| Materias: | |
| 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 |