Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
Stromberger, C., Bodamer, O. A., Stöckler‐Ipsiroglu, S.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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Creatine deficiency in the brain : a new, treatable inborn error of metabolism
STÖCKLER, S, HOLZBACH, U, HANEFELD, F, MARQUARDT, I, HELMS, G, REQUART, M, HÄNICKE, W, FRAHM, J
Published in Pediatric research (01.09.1994)
Published in Pediatric research (01.09.1994)
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Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsy
Plecko, B, Hikel, C, Korenke, G-C, Schmitt, B, Baumgartner, M, Baumeister, F, Jakobs, C, Struys, E, Erwa, W, Stöckler-Ipsiroglu, S
Published in Neuropediatrics (01.06.2005)
Published in Neuropediatrics (01.06.2005)
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The Clinical Spectrum of Mitochondrial Disease in 75 Pediatric Patients
Skladal, D., Sudmeier, C., Konstantopoulou, V., Stöckler-Ipsiroglu, S., Plecko-Startinig, B., Bernert, G., Zeman, J., Sperl, W.
Published in Clinical pediatrics (01.10.2003)
Published in Clinical pediatrics (01.10.2003)
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Characterization of seven novel mutations in seven patients with GAMT deficiency
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.
Published in Human mutation (01.05.2004)
Published in Human mutation (01.05.2004)
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Physiology and pathophysiology of organic acids in cerebrospinal fluid
Hoffmann, G F, Meier-Augenstein, W, Stöckler, S, Surtees, R, Rating, D, Nyhan, W L
Published in Journal of inherited metabolic disease (01.01.1993)
Published in Journal of inherited metabolic disease (01.01.1993)
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Homocystinuria due to cystathionine β‐synthase deficiency: Novel biochemical findings and treatment efficacy
Orendáč, M., Zeman, J., Stabler, S. P., Allen, R. H., Kraus, J. P., Bodamer, O., Stöckler‐Ipsiroglu, S., Kvasnička, J., Kožich, V.
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
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Long term follow-up of the dietary intake in propionic acidemia
Mobarak, A., Stockler, S., Salvarinova, R., Van Karnebeek, C., Horvath, G.
Published in Molecular genetics and metabolism reports (01.06.2021)
Published in Molecular genetics and metabolism reports (01.06.2021)
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Recurrent acroparaesthesia during febrile infections
Bodamer, OA, Ratschmann, R, Paschke, E, Voigtländer, T, Stockler-Ipsiroglu, S
Published in The Lancet (British edition) (22.05.2004)
Published in The Lancet (British edition) (22.05.2004)
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Nuclear magnetic resonance spectroscopy in glutaryl‐CoA dehydrogenase deficiency
Bodamer, O. A., Gruber, S., StÖckler‐Ipsiroglu, S.
Published in Journal of inherited metabolic disease (01.01.2004)
Published in Journal of inherited metabolic disease (01.01.2004)
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Degree of hypomyelination and magnetic resonance spectroscopy findings in patients with Pelizaeus Merzbacher phenotype
Plecko, B, Stöckler-Ipsiroglu, S, Gruber, S, Mlynarik, V, Moser, E, Simbrunner, J, Ebner, F, Bernert, G, Harrer, G, Gal, A, Prayer, D
Published in Neuropediatrics (01.06.2003)
Published in Neuropediatrics (01.06.2003)
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Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy
Barisic, N, Bernert, G, Ipsiroglu, O, Stromberger, C, Müller, T, Gruber, S, Prayer, D, Moser, E, Bittner, R E, Stöckler-Ipsiroglu, S
Published in Neuropediatrics (01.06.2002)
Published in Neuropediatrics (01.06.2002)
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Suggested clinical immobilization test (SCIT) for diagnosis of Willis–Ekbom disease in clinical practice
Beyzaei, N, Wagner, A, Berger, M, Milner, R, Stockler, S, Ipsiroglu, O
Published in Sleep medicine (01.12.2015)
Published in Sleep medicine (01.12.2015)
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