DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 01 · Volume 46 · April 2015 DOI: 10.1055/s-005-28977


Abstracts of the 41st Annual Meeting of the Society of Neuropediatrics
Basel, 23–26 April 2015

Prof. Dr. Peter Weber
Abstracts (HTML) List of Authors
FV02-01
Schulz, A.; Di Fruscio, G.; Braulke, T.; Nigro, V.; Ballabio, A.: LYSOPLEX: An Efficient Toolkit to Detect Sequence Variations in Genes Involved in the Lysosomal-Autophagic Pathway and Neurodegenerative Diseases
FV02-02
Schulz, A.; Simonati, A.; Laine, M.; Kilian, D.; William, R.; Kohlschütter, A.; Nickel, M.: The DEM-CHILD Neuronal Ceroid Lipofuscinoses Patient Database: A Tool for the Evaluation of Therapies in Neuronal Ceroid Lipofuscinoses
FV02-03
Schirmer, S.; Wittmann, W.; Schulte-Mattler, U.; Kohl, Z.; Hehr, U.: Mutation Spectrum and Infantile Manifestation in Hereditary Spastic Paraplegia
FV02-04
Gröschel, S.; Waibel, J.; van Rappard, D.; Kehrer, C.; Böhringer, J.; Schöls, L.; Wolf, N.; Krägeloh-Mann, I.: Intrafamilial Variability of Natural Disease Course in Metachromatic Leukodystrophy
FV02-05
Nickel, M.; Löbel, U.; Grosse, R.; Hartig, M.; Bley, A.; Schulz, A.; Kohlschütter, A.: Optic Atrophy in an Iron Storage Disorder Reducing Tissue Iron Load in a Child with MPAN Disease
FV02-06
Borell, S.; Fleck, T.; Speckmann, C.; Ehl, S.; Franck, P.; Fuchs, H.; Korinthenberg, R.; Kirschner, J.: Immunomodulatory Treatment of a Patient with Cross-Reactive Immunologic Material Negative Infantile Pompe Disease and Hypertrophic Cardiomyopathy
FV02-07
Köhler, C.; Thiels, C.; Hoffjan, S.; Abicht, A.; Heyer, C.; Kohlschütter, A.; Lücke, T.: Infantile Manifestation of a Mitochondriopathy due to a Homozygous Mutation in DARS2 Gene
FV02-08
Abela, L.; Simmons, L.; Steindl, K.; Schmitt, B.; Pascal, J.; Papuc, M.; Crowther, L.; Rauch, A.; Plecko, B.: A Novel Plasma Biomarker for Snyder Robinson Syndrome (X-Linked Spermine Synthase Deficiency)
FV02-09
Lustenberger, A.; Lemke, J.; Borck, G.; Grunt, S.; Steinlin, M.: Pontocerebellar Hypoplasia Type 9: A New Subtype
FV02-10
Brackmann, F.; Haak, T.; Prokisch, H.; Trollmann, R.: Leigh-Like Course of Progressive Encephalopathy Associated with ECHS1-Mutation— A Case Report
FV02-11
Storch, K.: Acute Necrotizing Encephalopathy: Two Cases and the Detection of a New RANBP2 Mutation
FV02-12
Freudenberg, L.; Schallner, J.; von der Hagen, M.; Nolte-Buchholtz, S.: Concepts of Pediatric Palliative Care in Medical Complex Children with Neurodegenerative Disease: Concurrent Care is an Option