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Late-onset Cerebrotendinous Xanthomatosis with a Novel Mutation in the CYP27A1 Gene.
Sasamura, Akari; Akazawa, Satoru; Haraguchi, Ai; Horie, Ichiro; Ando, Takao; Abiru, Norio; Takei, Hajime; Nittono, Hiroshi; Une, Mizuho; Kurosawa, Takao; Murai, Tsuyoshi; Naruse, Hiromu; Nakayama, Tomohiro; Kotani, Kazuhiko; Remaley, Alan T; Kawakami, Atsushi.
Afiliação
  • Sasamura A; Department of Endocrinology and Metabolism, Nagasaki University Hospital, Japan.
  • Akazawa S; Department of Endocrinology and Metabolism, Nagasaki University Hospital, Japan.
  • Haraguchi A; Department of Endocrinology and Metabolism, Nagasaki University Hospital, Japan.
  • Horie I; Department of Endocrinology and Metabolism, Nagasaki University Hospital, Japan.
  • Ando T; Department of Endocrinology and Metabolism, Nagasaki University Hospital, Japan.
  • Abiru N; Department of Endocrinology and Metabolism, Nagasaki University Hospital, Japan.
  • Takei H; Junshin Clinic Bile Acid Institute, Japan.
  • Nittono H; Junshin Clinic Bile Acid Institute, Japan.
  • Une M; Faculty of Pharmaceutical Science, Hiroshima International University, Japan.
  • Kurosawa T; School of Pharmaceutical Sciences, Health Sciences University of Hokkaido, Japan.
  • Murai T; School of Pharmaceutical Sciences, Health Sciences University of Hokkaido, Japan.
  • Naruse H; Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan.
  • Nakayama T; Health Science Research Institute, Inc., Japan.
  • Kotani K; Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan.
  • Remaley AT; Division of Companion Diagnostics, Department of Pathology of Microbiology, Nihon University School of Medicine, Japan.
  • Kawakami A; Division of Community and Family Medicine, Jichi Medical University, Japan.
Intern Med ; 57(11): 1611-1616, 2018 Jun 01.
Article em En | MEDLINE | ID: mdl-29434128
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Xantomatose Cerebrotendinosa / Colestanotriol 26-Mono-Oxigenase / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Xantomatose Cerebrotendinosa / Colestanotriol 26-Mono-Oxigenase / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article