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. Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
4. Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
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. Overlapping Phenotype of Adult-Onset ALPK3-Cardiomyopathy in the Setting of Two Novel Variants
10. Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population
11. Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients
12. Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish 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. Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation: High Outcome Variation between Two Siblings
19. BH4-deficient hyperphenylalaninemia in Russia
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. Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders
24. BH4-deficient hyperphenylalaninemia in Russia.
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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