DOI : 10.1055/s-00000041

Neuropediatrics

Ausgabe 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
Abstracts (HTML) Autorenliste
P1297
Husain, R; Brandl, U; Ramantani, G; Lee-Kirsch, AE; Kentouche, K: ADAMTS13 dysfunction and a novel frameshift mutation in the TREX1 gene in a patient with Aicardi-Goutières syndrome
P1298
Letzgus, A; Strohbusch, M; Dekomien, G; Mall, V; Korinthenberg, R; Kirschner, J: Psychiatric symptoms and CK-Elevation as initial manifestations of late-onset Tay-Sachs disease
P1299
Fiedler, B; Kalmus, U; Schwindt, W; Schwartz, O; Abels, C; Kurlemann, G: Globoid cell leukodystrophy (Morbus Krabbe) – Case report with characteristic clinical and imaging features
P1300
Sass, JO; Driess, J; Walter, M; Grünert, S; Sommer, A: Laboratory diagnostics of Canavan Disease using EBV-transformed lymphocytes
P1301
Meyer, S; Acquaviva, C; Ghiath Shamdeen, M; Furtwängler, R; Haas, D; Gortner, L; Vianey-Saban Saban, C: Neonatal hypotonia with burst suppression pattern reveals non ketotic hyperglycinemia associated with P-protein deficiency
P1302
Lengnick, K; Hasselmann, O; Horváth, R; Schoser, B; Mayr, J; Weissert, M: Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report
P1303
Gebhardt, B; Büchel, A; Porto, L; Vlaho, S: Promising treatment in a boy with creatine transporter deficiency
P1304
Illsinger, S; Bültmann, E; Noll, D; Schrader, C; Wolf, A; Das, A; Kranendijk, M; Salomons, G; Jakobs, C; Hartmann, H; Ding, XQ; Lücke, T: L-2-hydroxyglutaric aciduria: Infantile versus adult late-onset manifestation
P1305
Smitka, M; Schallner, J; Brocke, K; Hahn, G; der Hagen, M von; Hübner, A: Case report of a 1-year old girl with β-ureidopropionase deficiency and development of cystic encephalomalacia
P1306
Spiegler, J; Sperner, J: Three Children with Alpers' syndrome 2007–2010