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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.
Afiliação
  • Sofronova V; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.
  • Gurinova E; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
  • Petukhova D; Medical Genetics Center, Republic Hospital No. 1-National Center of Medicine, 677019 Yakutsk, Russia.
  • Fukamatsu H; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
  • Yamamoto T; Department of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan.
  • Aoyama Y; Department of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan.
  • Golikova P; Department of Dermatology, Kawasaki Medical School, Kurashiki 701-0192, Japan.
  • Moskvitin G; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
  • Ivanova R; Medical Genetics Center, Republic Hospital No. 1-National Center of Medicine, 677019 Yakutsk, Russia.
  • Savvina M; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
  • Vasilev F; Medical Genetics Center, Republic Hospital No. 1-National Center of Medicine, 677019 Yakutsk, Russia.
  • Moriwaki T; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
  • Terawaki S; Medical Genetics Center, Republic Hospital No. 1-National Center of Medicine, 677019 Yakutsk, Russia.
  • Sukhomyasova A; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
  • Maksimova N; Laboratory of Molecular Medicine and Human Genetics, North-Eastern Federal University, 677013 Yakutsk, Russia.
  • Otomo T; Department of Molecular and Genetic Medicine, Kawasaki Medical School, Kurashiki 701-0192, Japan.
Int J Mol Sci ; 24(6)2023 Mar 15.
Article em En | MEDLINE | ID: mdl-36982718
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridose II / Iduronato Sulfatase Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Mucopolissacaridose II / Iduronato Sulfatase Tipo de estudo: Diagnostic_studies Limite: Child / Humans / Male Idioma: En Revista: Int J Mol Sci Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Japão