DOI: 10.1055/s-00000041

Neuropediatrics

Issue 03 · Volume 36 · June 2005 DOI: 10.1055/s-002-4150

Original Article

  • 171
    Elleder, M.; Jeřábková, M.; Befekadu, A.; Hřebíček, M.; Berná, L.; Ledvinová, J.; Hůlková, H.; Rosewich, H.; Schymik, N.; Paton, B. C.; Harzer, K.:

    Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient

  • 181
    Ricci, D.; Pane, M.; Deodato, F.; Vasco, G.; Randò, T.; Caviglia, S.; Dionisi-Vici, C.; Mercuri, E.:

    Assessment of Visual Function in Children with Methylmalonic Aciduria and Homocystinuria

  • 186
    Maegaki, Y.; Kurozawa, Y.; Hanaki, K.; Ohno, K.:

    Risk Factors for Fatality and Neurological Sequelae after Status Epilepticus in Children

  • 193
    van Straaten, H. L. M.; van Tintelen, J. P.; Trijbels, J. M. F.; van den Heuvel, L. P.; Troost, D.; Rozemuller, J. M.; Duran, M.; de Vries, L. S.; Schuelke, M.; Barth, P. G.:

    Neonatal Lactic Acidosis, Complex I/IV Deficiency, and Fetal Cerebral Disruption

  • 200
    Plecko, B.; Hikel, C.; Korenke, G.-C.; Schmitt, B.; Baumgartner, M.; Baumeister, F.; Jakobs, C.; Struys, E.; Erwa, W.; Stöckler-Ipsiroglu, S.:

    Pipecolic Acid as a Diagnostic Marker of Pyridoxine-Dependent Epilepsy

    • Short Communication

  • 206
    Kabzińska, D.; Kochański , A.; Drac, H.; Ryniewicz, B.; Rowińska-Marcińska, K.; Hausmanowa-Petrusewicz, I.:

    Autosomal Recessive Axonal Form of Charcot-Marie-Tooth Disease Caused by Compound Heterozygous 3′-Splice Site and Ser130Cys Mutation in the GDAP1 Gene

  • 210
    Ebach, K.; Joos, H.; Doose, H.; Stephani, U.; Kurlemann, G.; Fiedler, B.; Hahn, A.; Hauser, E.; Hundt, K.; Holthausen, H.; Müller, U.; Neubauer, B. A.:

    SCN1A Mutation Analysis in Myoclonic Astatic Epilepsy and Severe Idiopathic Generalized Epilepsy of Infancy with Generalized Tonic-Clonic Seizures

  • 214
    Morava, É; Dinopoulos, A.; Kroes, H. Y.; Rodenburg, R. J. T.; van Bokhoven, H.; van den Heuvel, L. P.; Smeitink, J. A. M.:

    Mitochondrial Dysfunction in a Patient with Joubert Syndrome

  • 218
    Mancardi, M. M.; Fazzini, F.; Rossi, A.; Gaggero, R.:

    Hashimoto's Encephalopathy with Selective Involvement of the Nucleus Accumbens: A Case Report

  • 221
    Baumeister, F. A. M.; Auer, D. P.; Hörtnagel, K.; Freisinger, P.; Meitinger, T.:

    The Eye-of-the-Tiger Sign is not a Reliable Disease Marker for Hallervorden-Spatz Syndrome

  • 223
    Mercimek-Mahmutoglu, S.; van der Knaap, M. S.; Baric, I.; Prayer, D.; Stoeckler-Ipsiroglu, S.:

    Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC). Report of a New Case