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Page 1
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C-terminal phenotype.
Clin Genet. 2023 Jun;103(6):625-635. doi: 10.1111/cge.14319. Epub 2023 Mar 21.
Clin Genet. 2023.
PMID: 36843433
Review.
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Sofronova V, Iwata R, Moriya T, Loskutova K, Gurinova E, Chernova M, Timofeeva A, Shvedova A, Vasilev F, Novgorodova S, Terawaki S, Moriwaki T, Sukhomyasova A, Maksimova N, Otomo T.
Sofronova V, et al. Among authors: gurinova e.
Int J Mol Sci. 2022 May 23;23(10):5851. doi: 10.3390/ijms23105851.
Int J Mol Sci. 2022.
PMID: 35628659
Free PMC article.
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Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Kondo H, Maksimova N, Otomo T, Kato H, Imai A, Asano Y, Kobayashi K, Nojima S, Nakaya A, Hamada Y, Irahara K, Gurinova E, Sukhomyasova A, Nogovicina A, Savvina M, Yoshimori T, Ozono K, Sakai N.
Kondo H, et al. Among authors: gurinova e.
Hum Mol Genet. 2017 Jan 1;26(1):173-183. doi: 10.1093/hmg/ddw377.
Hum Mol Genet. 2017.
PMID: 28013294
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A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
Sofronova V, Gurinova E, Petukhova D, Fukamatsu H, Yamamoto T, Aoyama Y, Golikova P, Moskvitin G, Ivanova R, Savvina M, Vasilev F, Moriwaki T, Terawaki S, Sukhomyasova A, Maksimova N, Otomo T.
Sofronova V, et al. Among authors: gurinova e.
Int J Mol Sci. 2023 Mar 15;24(6):5647. doi: 10.3390/ijms24065647.
Int J Mol Sci. 2023.
PMID: 36982718
Free PMC article.
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A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
Maksimova NR, Gurinova EE, Sukhomyasova AL, Danilova AL, Kaimonov VS, Savvina MT, Yakovleva AE, Alekseeva EI.
Maksimova NR, et al. Among authors: gurinova ee.
Wiad Lek. 2016;69(2 Pt 2):295-8.
Wiad Lek. 2016.
PMID: 27487552
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