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Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Hum Mol Genet. 2017 Jan 1;26(1):173-183. doi: 10.1093/hmg/ddw377.
Hum Mol Genet. 2017.
PMID: 28013294
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: savvina m.
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: savvina mt.
Wiad Lek. 2016;69(2 Pt 2):295-8.
Wiad Lek. 2016.
PMID: 27487552
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