A5067254335- Mitochondrial Function and Pathology
- Biochemical and Molecular Research
- Metabolism and Genetic Disorders
- Long-Term Effects of COVID-19
- COVID-19 Clinical Research Studies
- COVID-19 and healthcare impacts
Russian Children's Clinical Hospital
2021-2024
Ministry of Health of the Russian Federation
2021-2024
Pirogov Russian National Research Medical University
2024
The coronavirus infection is a pressing issue in modern healthcare, yet the characteristics of SARS-CoV-2 course children with comorbidities remain insufficiently studied. aim this study was to evaluate clinical form, severity, and duration virus shedding pediatric patients somatic diseases, depending on comorbid pathology. Materials Methods. A comprehensive single-center retrospective conducted, analyzing 314 medical records hospitalized infectious diseases department Russian Children’s...
Background. Glutaric aciduria type 1 is an autosomal recessive disease caused by mutations in the GCDH gene, which encodes enzyme glutaryl‑CoA dehydrogenase. Metabolic crisis glutaric acute life‑threatening condition that requires careful diagnosis with a number of other conditions and immediate initiation pathogenetic therapy. Materials methods. Clinical manifestations, neuroimaging characteristics were studied 46 patients diagnosed confirmed biochemical molecular genetic Methods: gas...
Treatment of many the diseases in panel expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations gene GCDH , encoding glutaryl‑CoA dehydrogenase, an enzyme amino acid metabolic pathways. The decreased activity leads to accumulation neuro‑ toxic metabolites. recommended treatment approaches for GA1 are prescription specialized nutrition products, levocarnitine, and symptomatic management. In 2021, clinical guidelines this...