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

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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Bibliographic Details
Main Authors: Valentina V. Miroshnikova, Petr A. Vasiluev, Svetlana V. Linkova, Vladislav M. Soloviov, Olga N. Ivanova, Ekaterina R. Tolmacheva, Vasilisa Y. Udalova, Polina V. Baranova, Darya Y. Aleksandrova, Tatiana V. Strokova, Irina M. Miklashevich, Artem D. Izumchenko, Kseniia V. Dracheva, Maria N. Grunina, Nataliya N. Smirnova, Anna S. Kuchina, Ekaterina Y. Zakharova, Sofya N. Pchelina
Format: Article
Language:English
Published: MDPI AG 2023-10-01
Series:Journal of Personalized Medicine
Subjects:
sitosterolemia
ABCG8 variants
phytosterols
NGS
Online Access:https://www.mdpi.com/2075-4426/13/10/1492

Internet

https://www.mdpi.com/2075-4426/13/10/1492

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