DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 01 · Volume 42 · March 2011 DOI: 10.1055/s-002-21774


Abstracts of the 37th Annual Meeting of the Society of Neuropediatrics
Garmisch-Partenkirchen, 7.–10. April 2011

Prof. Dr. med. Florian Heinen, München
Abstracts (HTML) List of Authors
P071
Sauer, SW; Opp, S; Hoffmann, GF; Koeller, DM; Okun, JG; Kölker, S: Therapeutic modulation of cerebral lysine metabolism in a mouse model for glutaric aciduria type I
P072
Freisinger, P; Haack, T; Biste, M; Madignier, F; Ahting, U; Rolinski, B; Mayr, J; Tesarova, M; Horvath, R; Sperl, W; Zeviani, M; Meitinger, T; Prokisch, H: Mitochondrial complex I deficiency – new diagnostic approaches allow better genetic characterisation of 150 patients
P073
Haack, TB; Danhauser, K; Haberberger, B; Hoser, J; Uziel, G; Biskup, S; Rolinski, B; Schmidt, T; Wittig, I; Zeviani, M; Freisinger, P; Meitinger, T; Prokisch, H: Mitochondrial complex I deficiency: exome sequencing aids efficient diagnosis and identification of a novel disease gene
P074
Makowski, C; Tauer, U; Ahting, U; Prokisch, H; Rolinski, B; Freisinger, P: Long-term outcome of children with cytochrome-C-oxidase-deficiency and SURF-1-mutation
P075
Abels, C; Fiedler, B; Weimer, W; Rutsch, F; Kurlemann, G: Differenzial diagnosis of acute encephalopathy: Acute decompensation in ornithine transcarbamylase (OTC) deficiency in a seven year old girl
P076
Ahting, U; Prokisch, H; Makowski, C; Hofmann, W; Freisinger, P; Rolinski, B: Biochemical and genetic testing in a large cohort of patients with suspicion of mitochondriopathy
P077
Mayr, J; Zimmermann, F; Horvat, R; Schneider, HC; Freisinger, P; Sperl, W: Deficiency of the mitochondrial phosphate carrier as a cause of combined mitochondrial (cardio-)myopathy
P078
Bußmann, C; Kotzaeridou, U; Pietz, J; Bauer, M: PDH deficiency: identification of a novel mutation in the PDHA1gene in twins with intermittent weakness, resembling Guillain-Barré syndrome
P079
Scheffner, T; Mayr, J; Rolinski, B; Ahting, U; Prokisch, H; Sperl, W; Freisinger, P: Progressive dyskinetic spastic paresis in siblings: a new disorder of pyruvate oxidation
P080
Clas, P; Gröschel, S; Krägeloh-Mann, I; Wilke, M: Semi-Automatic quantification of demyelination load in children with metachromatic leukodystrophy on MR-images
P081
Kissenbeck, C; Hartmann, M; Barkmann, C; Kilian, D; Richterich, A; Schulte-Markwort, M; Kohlschütter, A; Schulz, A: Psychopathology in CLN3 disease: Correlation with disease progression and quality of life
P082
Brixius-Huth, M; Heidrich, A; Reinke, J; Beck, M; Mengel, E; Rhein, M von: The new Gaucher-Pass: A key tool in management of shortage
P083
Baethmann, M; Noss, J; Leiz, S; Hiener, U; Fowler, B; Marquardt, T; Schwahn, B: Comparing two children with different inborn errors of remethylation: Classic and unusual clinical presentation, diagnosis, MRI changes and outcome under treatment with betaine, cobalamin, folate and carnitine
P084
Koch, J; Mayr, J; Rauscher, C; Bodamer, O; Hung, C; Wagner, O; Sperl, W: Severe neonatal myopathy due to SUCLG1 deficiency with methylmalonic aciduria detected via newborn screening
P085
Koch, KA; Bussmann, CB: Oculocutaneous albinism
P086
Schneider, C; Walkinshaw, G; Gassmann, M; Trollmann, R: Activation of neuronal migration factor CXCR4 by pharmacological HIF stabilization in developing mouse brain
P087
Smitka, M; Hume, R; Schallner, J; Hübner, A; Brocke, K; Eisenhofer, G: Reference intervals of plasma catecholamines in newborns for diagnosis of Menkes disease
P088
Wüller, DH; Kalmus, U; Gerleve, H: The effect of Lamotrigin and Levetiracetam on the perinatal period
P089
Poretti, A; Meoded, A; Boltshauser, E; Huisman, TAGM: Postnatal in-vivo MRI findings in anencephaly
P090
Blank, AE; Reitter, A; Heinrich, T; Louwen, F; Mittelbronn, M; Harter, PN: Fluid accumulation in the fetal extracerebral spaces: External hydrocephalus or subdural hygromas?
P091
Weitkämper, A; Weigt-Usinger, K; Teig, N; Schauer, U; Lücke, T: Neurodevelopmental outcome at 24 and 36 months of age in very low birth weight infants assessed by Bayley Scales of Infant Development II
P092
Nögel, SC; Deiters, L; Leis, T; Trollmann, R: Development of pretems <1500g in the first two years of life: Standardized testing according to the Griffith Scales and Mental Bayley Scales
P093
Zsoter, A; Staudt, M; Wilke, M: Objective identification of successful performed clinical fMRI in children
P094
Ebner, K; Lidzba, K; Hauser, TK; Wilke, M: Analysis of the control condition of a language fMRI task: a simple alternative to assess visuospatial functions?
P095
Bigi, S; Wingeier, K; Boltshauser, E; Heinks-Maldonado, T; Steinlin, M: Acquired isolated focal cerebellar lesions during development: effect on cognition?