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Intrafamilial phenotypic distinction of hypophosphatasia with identical tissue nonspecific alkaline phosphatase gene mutation: a family report.
Kato, Masaru; Hattori, Toshiyuki; Shimizu, Tomohiro; Ninagawa, Keita; Izumihara, Rimi; Nomoto, Hiroshi; Tanimura, Kazuhide; Atsumi, Tatsuya.
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  • Kato M; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N15W7, Kita-Ku, Sapporo, 060-8638, Japan. ktmasaru@med.hokudai.ac.jp.
  • Hattori T; Hokkaido Medical Center for Rheumatic Diseases, Sapporo, Japan.
  • Shimizu T; Department of Orthopedic Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.
  • Ninagawa K; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N15W7, Kita-Ku, Sapporo, 060-8638, Japan.
  • Izumihara R; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N15W7, Kita-Ku, Sapporo, 060-8638, Japan.
  • Nomoto H; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N15W7, Kita-Ku, Sapporo, 060-8638, Japan.
  • Tanimura K; Hokkaido Medical Center for Rheumatic Diseases, Sapporo, Japan.
  • Atsumi T; Department of Rheumatology, Endocrinology and Nephrology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, N15W7, Kita-Ku, Sapporo, 060-8638, Japan.
J Bone Miner Metab ; 38(6): 903-907, 2020 Nov.
Article en En | MEDLINE | ID: mdl-32772198
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatasa Alcalina / Hipofosfatasia / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Bone Miner Metab Asunto de la revista: METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Japón
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfatasa Alcalina / Hipofosfatasia / Mutación Tipo de estudio: Diagnostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: J Bone Miner Metab Asunto de la revista: METABOLISMO Año: 2020 Tipo del documento: Article País de afiliación: Japón