Search Results - "Sidorova, Olga P"
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Efficient Assay and Marker Significance of NAD + in Human Blood
Published in Frontiers in medicine (19-05-2022)“…Oxidized nicotinamide adenine dinucleotide (NAD ) is a biological molecule of systemic importance. Essential role of NAD in cellular metabolism relies on the…”
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Pharmacological Doses of Thiamine Benefit Patients with the Charcot–Marie–Tooth Neuropathy by Changing Thiamine Diphosphate Levels and Affecting Regulation of Thiamine-Dependent Enzymes
Published in Biochemistry (Moscow) (01-07-2024)“…Charcot–Marie–Tooth (CMT) neuropathy is a polygenic disorder of peripheral nerves with no effective cure. Thiamine (vitamin B1) is a neurotropic compound that…”
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Torsion dystonia type 30. Clinical observation. Case report
Published in Consilium medicum (Online) (17-07-2023)“…A 58-year-old patient with type 30 dystonia (OMIM619291) detected by genome-wide sequencing was described. A variant of rs778751388, not previously described…”
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Clinical observations of Leber hereditary optic neuropathy with and without neurological symptoms
Published in Annaly kliničeskoj i èksperimentalʹnoj nevrologii (Online) (15-01-2022)“…Three case studies of adults with Leber hereditary optic neuropathy with and without neurological symptoms are presented. An elevated blood lactate level and…”
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Distal arthrogryposis type 5 – arthrogryposis with ophthalmoplegia, polyneuropathy. Case Report
Published in Consilium medicum (Online) (2021)“…A clinical case of a 27-year-old patient with distal arthrogryposis of the 5th type – arthrogryposis with ophthalmoplegia, which was combined in a patient with…”
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