A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines
Sofronova, Viktoriia, Gurinova, Elizaveta, Petukhova, Diana, Fukamatsu, Hiroko, Yamamoto, Takenobu, Aoyama, Yumi, Golikova, Polina, Moskvitin, Gavril, Ivanova, Roza, Savvina, Mira, Vasilev, Filipp, Moriwaki, Takahito, Terawaki, Seigo, Sukhomyasova, Aitalina, Maksimova, Nadezhda, Otomo, Takanobu
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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Journal Article
A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report
Maksimova, Nadezda R, Gurinova, Elizaveta E, Sukhomyasova, Aitalina L, Danilova, Anastasia L, Kaimonov, Vladimir S, Savvina, Mira T, Yakovleva, Aleksandra E, Alekseeva, Elena I
Published in Wiadomości lekarskie (1960) (2016)
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Published in Wiadomości lekarskie (1960) (2016)
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Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms
Kondo, Hidehito, Maksimova, Nadezda, Otomo, Takanobu, Kato, Hisakazu, Imai, Atsuko, Asano, Yoshihiro, Kobayashi, Kaori, Nojima, Satoshi, Nakaya, Akihiro, Hamada, Yusuke, Irahara, Kaori, Gurinova, Elizaveta, Sukhomyasova, Aitalina, Nogovicina, Anna, Savvina, Mira, Yoshimori, Tamotsu, Ozono, Keiichi, Sakai, Norio
Published in Human molecular genetics (01.01.2017)
Published in Human molecular genetics (01.01.2017)
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Journal Article
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines
Sofronova, Viktoriia, Gurinova, Elizaveta, Petukhova, Diana, Fukamatsu, Hiroko, Yamamoto, Takenobu, Aoyama, Yumi, Golikova, Polina, Moskvitin, Gavril, Ivanova, Roza, Savvina, Mira, Vasilev, Filipp, Moriwaki, Takahito, Terawaki, Seigo, Sukhomyasova, Aitalina, Maksimova, Nadezhda, Otomo, Takanobu
Published in International journal of molecular sciences (15.03.2023)
Published in International journal of molecular sciences (15.03.2023)
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METHOD FOR SIMULTANEOUS DIAGNOSIS OF HEREDITARY DISEASES
Yakovleva Aleksandra Eremeevna, Maksimova Nadezhda Romanovna, Alekseeva Elena Ivanovna, Danilova Anastasiya Lukichna, Kajmonov Vladimir Sergeevich, Kurtanov Khariton Alekseevich, Gureva Polina Innokentevna, Kuznetsov Artem Aleksandrovich, Sukhomyasova Ajtalina Lukichna, Savvina Mira Tairzhanovna
Year of Publication 03.08.2017
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Year of Publication 03.08.2017
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