Výsledky vyhledávání - "S Shermin-Levine"

Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

Autor: Simon Heales, Georg F. Hoffmann, Terence D. Sanger, Santosh R. Mordekar, Paul Gissen, Philip Jardine, Ertan Mayatepek, S Shermin-Levine, Manju A. Kurian, Eamonn R. Maher, Timothy J. Lewis, A. von Moers, Birgit Assmann, Elizabeth Wraige, Hans-Juergen Christen

Publikováno v: Neuropediatrics. 41

Aim of the study: To describe the clinical features and underlying etiology of a group of patients with a unique complex movement disorder. Methods: The clinical features (including video footage) and results of CSF investigation of 10 patients (from

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e38d261cfb120f34e994228ebee6a90e
https://doi.org/10.1055/s-0030-1265514

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