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
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
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
