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Orphanet Journal of Rare Diseases|February 24, 2019
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-upPatryk Lipiński, Ladislav Kuchar, Ekaterina Y Zakharova, et al.
Biochemistry. Biokhimiia|September 1, 2024
Dose-Dependent Alterations of Lysosomal Activity and Alpha-Synuclein in Peripheral Blood Monocyte-Derived Macrophages and SH-SY5Y Neuroblastoma Cell Line by upon Inhibition of MTOR Protein Kinase - Assessment of the Prospects of Parkinson's Disease TherapyAnastasia I Bezrukova, Katerina S Basharova, Galina V Baydakova, et al.
International Journal of Neonatal Screening|September 27, 2023
New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase DeficiencyGalina V Baydakova, Polina G Tsygankova, Natalia L Pechatnikova, et al.
Biochemistry. Biokhimiia|March 9, 2025
Effect of LRRK2 Inhibition on the Activity of Glucocerebrosidase in Patient-Specific Cells from Patients with Gaucher DiseaseTatiana S Usenko, Katerina S Basharova, Anastasia I Bezrukova, et al.
BMC Medical Genetics|July 13, 2019
Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patientsAnna V Degtyareva, Tatiana Y Proshlyakova, Marina S Gautier, et al.
Mutation Research|May 7, 2013
Oxidized DNA induces an adaptive response in human fibroblastsSvetlana V Kostyuk, Viacheslav J Tabakov, Valerij V Chestkov, et al.
Metabolites|April 9, 2020
Microbiome-Metabolome Signature of Acute Kidney InjuryNadezda V Andrianova, Vasily A Popkov, Natalia S Klimenko, et al.
Metabolic Brain Disease|April 3, 2020
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH geneMarina V Kurkina, Svetlana V Mihaylova, Galina V Baydakova, et al.
Life (Basel, Switzerland)|October 23, 2021
Serum Cytokine Profile, Beta-Hexosaminidase A Enzymatic Activity and GM2 Ganglioside Levels in the Plasma of a Tay-Sachs Disease Patient after Cord Blood Cell Transplantation and Curcumin Administration: A Case ReportAlisa A Shaimardanova, Daria S Chulpanova, Valeriya V Solovyeva, et al.
International Journal of Molecular Sciences|March 11, 2023
Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's DiseaseElena V Grigor'eva, Alena E Kopytova, Elena S Yarkova, et al.
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