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Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.
Koyama, Shingo; Okabe, Yuma; Suzuki, Yuya; Igari, Ryosuke; Sato, Hiroyasu; Iseki, Chifumi; Tanji, Kazuyo; Suzuki, Kyoko; Ohta, Yasuyuki.
Afiliação
  • Koyama S; Department of Internal Medicine III, Division of Neurology and Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan. skoyama@med.id.yamagata-u.ac.jp.
  • Okabe Y; Department of Internal Medicine III, Division of Neurology and Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.
  • Suzuki Y; Department of Internal Medicine III, Division of Neurology and Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.
  • Igari R; Department of Internal Medicine III, Division of Neurology and Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.
  • Sato H; Department of Internal Medicine III, Division of Neurology and Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.
  • Iseki C; Department of Internal Medicine III, Division of Neurology and Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.
  • Tanji K; Department of Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.
  • Suzuki K; Department of Psychiatry, Koishikawa Tokyo Hospital, 4-45-16 Otsuka, Bunkyo-ku, Tokyo, 112-0012, Japan.
  • Ohta Y; Department of Internal Medicine III, Division of Neurology and Clinical Neuroscience, Yamagata University Faculty of Medicine, 2-2-2 Iida-nishi, Yamagata, 990-9585, Japan.
BMC Neurol ; 22(1): 193, 2022 May 25.
Article em En | MEDLINE | ID: mdl-35614401
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Xantomatose / Xantomatose Cerebrotendinosa Tipo de estudo: Prognostic_studies / Screening_studies Limite: Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Xantomatose / Xantomatose Cerebrotendinosa Tipo de estudo: Prognostic_studies / Screening_studies Limite: Humans / Male País/Região como assunto: Asia Idioma: En Ano de publicação: 2022 Tipo de documento: Article