Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism von Stromberger, C., Bodamer, O. A., Stöckler‐Ipsiroglu, S.

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Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature von Huemer, M, Huemer, C, Möslinger, D, Huter, D, Stöckler-Ipsiroglu, S

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Pipecolic Acid as a Diagnostic Marker of Pyridoxine-Dependent Epilepsy von Plecko, B., Hikel, C., Korenke, G.-C., Schmitt, B., Baumgartner, M., Baumeister, F., Jakobs, C., Struys, E., Erwa, W., Stöckler-Ipsiroglu, S.

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Creatine deficiency in the brain : a new, treatable inborn error of metabolism von STÖCKLER, S, HOLZBACH, U, HANEFELD, F, MARQUARDT, I, HELMS, G, REQUART, M, HÄNICKE, W, FRAHM, J

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Characterization of seven novel mutations in seven patients with GAMT deficiency von Item, C.B., Mercimek-Mahmutoglu, S., Battini, R., Edlinger-Horvat, C., Stromberger, C., Bodamer, O., Mühl, A., Vilaseca, M.A., Korall, H., Stöckler-Ipsiroglu, S.

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Guanidino compounds in guanidinoacetate methyltransferase deficiency, a new inborn error of creatine synthesis von Stöckler, S., Marescau, B., De Deyn, P.R., Trijbels, J.M.F., Hanefeld, F.

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Guanidinoacetate methyltransferase deficiency: differences of creatine uptake in human brain and muscle von Ensenauer, R, Thiel, T, Schwab, K.O, Tacke, U, Stöckler-Ipsiroglu, S, Schulze, A, Hennig, J, Lehnert, W

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The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients von Skladal, D., Sudmeier, C., Konstantopoulou, V., Stöckler-Ipsiroglu, S., Plecko-Startinig, B., Bernert, G., Zeman, J., Sperl, W.

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Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy von Orendáč, M., Zeman, J., Stabler, S. P., Allen, R. H., Kraus, J. P., Bodamer, O., Stöckler‐Ipsiroglu, S., Kvasnička, J., Kožich, V.

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Long term follow-up of the dietary intake in propionic acidemia von Mobarak, A., Stockler, S., Salvarinova, R., Van Karnebeek, C., Horvath, G.

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Recurrent acroparaesthesia during febrile infections von Bodamer, OA, Ratschmann, R, Paschke, E, Voigtländer, T, Stockler-Ipsiroglu, S

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Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria von Mercimek-Mahmutoglu, S., Moeslinger, D., Häberle, J., Engel, K., Herle, M., Strobl, M.W., Scheibenreiter, S., Muehl, A., Stöckler-Ipsiroglu, S.

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Physiology and pathophysiology of organic acids in cerebrospinal fluid von Hoffmann, G. F., Meier‐Augenstein, W., Stöckler, S., Surtees, R., Rating, D., Nyhan, W. L.

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Nuclear magnetic resonance spectroscopy in glutaryl‐CoA dehydrogenase deficiency von Bodamer, O. A., Gruber, S., StÖckler‐Ipsiroglu, S.

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Degree of Hypomyelination and Magnetic Resonance Spectroscopy Findings in Patients with Pelizaeus Merzbacher Phenotype von Plecko, B., Stöckler-Ipsiroglu, S., Gruber, S., Mlynarik, V., Moser, E., Simbrunner, J., Ebner, F., Bernert, G., Harrer, G., Gal, A., Prayer, D.

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Lack of correlation between fatty acid oxidation disorders and haemolysis, elevated liver enzymes, low platelets (HELLP) syndrome? von HOLUB, M, BODAMER, O. A, ITEM, C, MÜHL, A, POLLAK, A, STÖCKLER-IPSIROGLU, S

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Willis–Ekbom disease (WED) and sleep problems in children with Down syndrome (DS) von Chan, M, Beyzaei, N, Stockler, S, Ipsiroglu, O

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Effects of Oral Creatine Supplementation in a Patient with MELAS Phenotype and Associated Nephropathy von Barisic, N., Bernert, G., Ipsiroglu, O., Stromberger, C., Müller, T., Gruber, S., Prayer, D., Moser, E., Bittner, R. E., Stöckler-Ipsiroglu, S.

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Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism von STÖCKLER, S, HANEFELD, F, FRAHM, J

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Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation von Mühl, A, Möslinger, D, Item, C B, Stöckler-Ipsiroglu, S

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