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Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Semyachkina, A N; Voskoboeva, E Y; Zakharova, E Y; Nikolaeva, E A; Kanivets, I V; Kolotii, A D; Baydakova, G V; Kharabadze, M N; Kuramagomedova, R G; Melnikova, N V.
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  • Semyachkina AN; Department of Clinical Genetics, Research and Clinical Institute of Pediatrics named after Yuri Veltischev of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 2 Taldomskaya St, Moscow, 125412, Russia. asemyachkina@pedklin.ru.
  • Voskoboeva EY; Research Centre for Medical Genetics RAN, 1 Moskvorechie St, Moscow, 115522, Russia.
  • Zakharova EY; Research Centre for Medical Genetics RAN, 1 Moskvorechie St, Moscow, 115522, Russia.
  • Nikolaeva EA; Department of Clinical Genetics, Research and Clinical Institute of Pediatrics named after Yuri Veltischev of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 2 Taldomskaya St, Moscow, 125412, Russia.
  • Kanivets IV; Genomed, Moscow, 8/5 Podolskoye Shosse, Moscow, Russia.
  • Kolotii AD; Department of Clinical Genetics, Research and Clinical Institute of Pediatrics named after Yuri Veltischev of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 2 Taldomskaya St, Moscow, 125412, Russia.
  • Baydakova GV; Research Centre for Medical Genetics RAN, 1 Moskvorechie St, Moscow, 115522, Russia.
  • Kharabadze MN; Department of Clinical Genetics, Research and Clinical Institute of Pediatrics named after Yuri Veltischev of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 2 Taldomskaya St, Moscow, 125412, Russia.
  • Kuramagomedova RG; Department of Clinical Genetics, Research and Clinical Institute of Pediatrics named after Yuri Veltischev of the Pirogov Russian National Research Medical University of the Ministry of Health of the Russian Federation, 2 Taldomskaya St, Moscow, 125412, Russia.
  • Melnikova NV; Kuban Medical and Genetics Center, 167, Pervogo Maya St, Krasnodar, Russia.
BMC Med Genet ; 20(1): 66, 2019 05 02.
Article em En | MEDLINE | ID: mdl-31046699
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucopolissacaridose II / Iduronato Sulfatase Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mucopolissacaridose II / Iduronato Sulfatase Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article