Neuropediatrics

Issue 02 · Volume 41 · August 2010 DOI: 10.1055/s-002-21261

Abstracts of the 36th Annual Meeting of the Society of Neuropediatrics
Mannheim, 22.–25. September 2010

Chair: Prof. Dr. med. Ingeborg Krägeloh-Mann, Tübingen

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Neurometabolic Disorders

V1235

Steinfeld, R; Grapp, M; Dreha-Kulaczewski, S; Gärtner, J: Clinical signs and treatment of cerebral folate transport deficiency, a novel inherited disorder of folate metabolism

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V1236

Henneke, M; Diekmann, S; Haud, N; Hurlstone, A; Gärtner, J: RNASET2-deficient cystic leukoencephalopathy: a new lysosomal disorder

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V1237

Gröschel, S; Kehrer, C; i Dali, C; Wilke, M; Grodd, W; Krägeloh-Mann, I: Metachromatic Leukodystrophy: spatial and temporal pattern of MRI changes and their association with motor deterioration

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V1238

Assmann, B; Hoffmann, GF; Christen, HJ; Moers, A von; Sanger, T; Mordekar, S; Jardine, P; Lewis, T; Wraige, E; Shermin-Levine, S; Heales, S; Gissen, P; Mayatepek, E; Maher, E; Kurian, MA: Dopamine transporter defect: Infantile parkinsonism-dystonia with elevated dopamine metabolites in cerebrospinal fluid is genetically resolved

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V1239

Heringer, J; Boy, SPN; Ensenauer, R; Assmann, B; Zschocke, J; Harting, I; Lücke, T; Maier, EM; Mühlhausen, C; Haege, G; Hoffmann, GF; Burgard, P; Kölker, S: Use of guidelines improves the neurological outcome in glutaric aciduria type I

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V1240

Lebrun, AH; Storch, S; Pohl, S; Streichert, T; Mole, SE; Ullrich, K; Kohlschütter, A; Braulke, T; Schulz, A: Identification of potential biomarkers and modifiers of CLN3-disease progression

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