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Functional Analysis of the PCCA and PCCB Gene Variants Predicted to Affect Splicing.
Int J Mol Sci. 2021 Apr 16;22(8):4154. doi: 10.3390/ijms22084154.
Int J Mol Sci. 2021.
PMID: 33923806
Free PMC article.
Alkaptonuria in Russia: mutational spectrum and novel variants.
Bychkov I, Kamenets E, Kurkina M, Rychkov G, Ilyushkina A, Filatova A, Guseva D, Baydakova G, Nekrasov A, Cheblokov A, Skoblov M, Zakharova E.
Bychkov I, et al. Among authors: ilyushkina a.
Eur J Med Genet. 2021 Apr;64(4):104165. doi: 10.1016/j.ejmg.2021.104165. Epub 2021 Feb 20.
Eur J Med Genet. 2021.
PMID: 33621656
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Additive effect of frequent polymorphism and rare synonymous variant alters splicing in twin patients with Niemann-Pick disease type C.
Bychkov I, Filatova A, Perelman G, Proshlyakova T, Korotkova D, Klyushnikov S, Karpova M, Tabakov V, Baydakova G, Ilyushkina A, Skoblov M, Zakharova E.
Bychkov I, et al. Among authors: ilyushkina a.
Eur J Hum Genet. 2022 Jan;30(1):133-136. doi: 10.1038/s41431-021-00898-7. Epub 2021 May 6.
Eur J Hum Genet. 2022.
PMID: 33958742
Free PMC article.
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Elevated LysoGb3 Concentration in the Neuronopathic Forms of Mucopolysaccharidoses.
Baydakova G, Ilyushkina A, Gaffke L, Pierzynowska K, Bychkov I, Ługowska A, Wegrzyn G, Tylki-Szymanska A, Zakharova E.
Baydakova G, et al. Among authors: ilyushkina a.
Diagnostics (Basel). 2020 Mar 13;10(3):155. doi: 10.3390/diagnostics10030155.
Diagnostics (Basel). 2020.
PMID: 32183018
Free PMC article.
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α-Galactosidase A/lysoGb3 ratio as a potential marker for Fabry disease in females.
Baydakova GV, Ilyushkina AA, Moiseev S, Bychkov IO, Nikitina NV, Buruleva ТА, Zakharova EY.
Baydakova GV, et al. Among authors: ilyushkina aa.
Clin Chim Acta. 2020 Feb;501:27-32. doi: 10.1016/j.cca.2019.10.031. Epub 2019 Nov 23.
Clin Chim Acta. 2020.
PMID: 31770509
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Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases.
Ługowska A, Baydakova G, Ilyushkina A, Zakharova E, Mierzewska H, Szymańska K, Wierzba J, Kubalska J, Graban A, Kmieć T, Perkowska-Sumiła B, Tylki-Szymańska A, Bednarska-Makaruk M.
Ługowska A, et al. Among authors: ilyushkina a.
Diagnostics (Basel). 2021 Feb 16;11(2):320. doi: 10.3390/diagnostics11020320.
Diagnostics (Basel). 2021.
PMID: 33669444
Free PMC article.
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Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders.
Tsygankova PG, Itkis YS, Krylova TD, Kurkina MV, Bychkov IO, Ilyushkina AA, Zabnenkova VV, Mikhaylova SV, Pechatnikova NL, Sheremet NL, Zakharova EY.
Tsygankova PG, et al. Among authors: ilyushkina aa.
J Inherit Metab Dis. 2019 Sep;42(5):918-933. doi: 10.1002/jimd.12142. Epub 2019 Jul 24.
J Inherit Metab Dis. 2019.
PMID: 31260105
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