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Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder
Chanarin-Dorfman syndrome (CDS) is a rare medical condition that is inherited in an autosomal recessive pattern. In CDS, a comparative gene identification-58 gene mutation causes the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear. CDS patients p...
Autores principales: | Mangukiya, Nisarg P, Kaleem, Safa, Meghana, D Ragasri, Ishfaq, Lyluma, Kochhar, Gunjan, Mathew, Bejoi, Pulekar, Shivani, Lainingwala, Aashka C, Parmar, Mihirkumar P, Venugopal, Vishal |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10515467/ https://www.ncbi.nlm.nih.gov/pubmed/37746493 http://dx.doi.org/10.7759/cureus.43889 |
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