28 results on '"Zakharova, Ekaterina Y."'
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2. Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
3. Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
4. Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
5. New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
6. Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson’s Disease
7. Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients
8. Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
9. Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients
10. Overlapping Phenotype of Adult-Onset ALPK3-Cardiomyopathy in the Setting of Two Novel Variants
11. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population
12. Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients
13. Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked withGBA1Mutations?
14. A Clinical Case of a Homozygous Deletion in the APOA5 Gene with Severe Hypertriglyceridemia
15. Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1
16. Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.
17. Сlinical and genetic characteristics of skeletal cyliopathies – short-rib thoracic dysplasia
18. BH4-deficient hyperphenylalaninemia in Russia
19. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation: High Outcome Variation between Two Siblings
20. Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy
21. Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants
22. First report of microcephaly-capillary malformations syndrome in Russia
23. BH4-deficient hyperphenylalaninemia in Russia.
24. Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders
25. Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
26. Hepatic glycogen synthase (GYS2) deficiency: seven novel patients and seven novel variants.
27. Mitochondrial DNA mutations in cases of Leigh-like disease
28. The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis
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