Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice

Here, we report the pediatric cases of sitosterolemia, a rare autosomal-recessive genetic disorder, characterized by high concentrations of plant sterols in blood and heterogeneity manifestations. All three patients (two girls aged 2 and 6 years old, and one boy aged 14 years old) were initially dia...

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Detalles Bibliográficos
Autores principales: Miroshnikova, Valentina V., Vasiluev, Petr A., Linkova, Svetlana V., Soloviov, Vladislav M., Ivanova, Olga N., Tolmacheva, Ekaterina R., Udalova, Vasilisa Y., Baranova, Polina V., Aleksandrova, Darya Y., Strokova, Tatiana V., Miklashevich, Irina M., Izumchenko, Artem D., Dracheva, Kseniia V., Grunina, Maria N., Smirnova, Nataliya N., Kuchina, Anna S., Zakharova, Ekaterina Y., Pchelina, Sofya N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10608675/
https://www.ncbi.nlm.nih.gov/pubmed/37888103
http://dx.doi.org/10.3390/jpm13101492

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10608675/
https://www.ncbi.nlm.nih.gov/pubmed/37888103
http://dx.doi.org/10.3390/jpm13101492

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