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A SLC20A2 gene mutation carrier displaying ataxia and increased levels of cerebrospinal fluid phosphate.
Paucar, Martin; Almqvist, Håkan; Jelic, Vesna; Hagman, Göran; Jörneskog, Gun; Holmin, Staffan; Björkhem, Ingemar; Svenningsson, Per.
  • Paucar M; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden. Electronic address: martin.paucar-arce@karolinska.se.
  • Almqvist H; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.
  • Jelic V; Department of Geriatric Medicine, Memory Clinic, Karolinska University Hospital-Huddinge, Stockholm, Sweden; Department of Neurobiology, Care Sciences and Society, Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
  • Hagman G; Department of Neurobiology, Care Sciences and Society, Division of Clinical Geriatrics, Karolinska Institutet, Stockholm, Sweden.
  • Jörneskog G; Division of Medicine, Department of Clinical Sciences Danderyd Hospital, Karolinska Institutet, Stockholm, Sweden.
  • Holmin S; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Department of Neuroradiology, Karolinska University Hospital, Stockholm, Sweden.
  • Björkhem I; Division of Clinical Chemistry, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Svenningsson P; Department of Neurology, Karolinska University Hospital, Stockholm, Sweden; Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
J Neurol Sci ; 375: 245-247, 2017 04 15.
Article en En | MEDLINE | ID: mdl-28320140

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfatos / Ataxia / Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III / Heterocigoto / Mutación Límite: Female / Humans / Middle aged Idioma: En Año: 2017 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfatos / Ataxia / Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III / Heterocigoto / Mutación Límite: Female / Humans / Middle aged Idioma: En Año: 2017 Tipo del documento: Article