Citrin deficiency mimicking mitochondrial depletion syndrome
Grünert, S C, Schumann, A, Freisinger, P, Rosenbaum-Fabian, S, Schmidts, M, Mueller, A J, Beck-Wödl, S, Haack, T B, Schneider, H, Fuchs, H, Teufel, U, Gramer, G, Hannibal, L, Spiekerkoetter, U
Published in BMC pediatrics (11.11.2020)
Published in BMC pediatrics (11.11.2020)
Get full text
Journal Article
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop
Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U
Published in Journal of inherited metabolic disease (01.08.2009)
Published in Journal of inherited metabolic disease (01.08.2009)
Get full text
Journal Article
Single dose NTBC-treatment of hereditary tyrosinemia type I
Schlune, A., Thimm, E., Herebian, D., Spiekerkoetter, U.
Published in Journal of inherited metabolic disease (01.09.2012)
Published in Journal of inherited metabolic disease (01.09.2012)
Get full text
Journal Article
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop
Spiekerkoetter, U, Lindner, M, Santer, R, Grotzke, M, Baumgartner, M. R, Boehles, H, Das, A, Haase, C, Hennermann, J. B, Karall, D, de Klerk, H, Knerr, I, Koch, H. G, Plecko, B, Röschinger, W, Schwab, K. O, Scheible, D, Wijburg, F. A, Zschocke, J, Mayatepek, E, Wendel, U
Published in Journal of inherited metabolic disease (01.08.2009)
Published in Journal of inherited metabolic disease (01.08.2009)
Get full text
Journal Article
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening
Grünert, Sarah C, Wehrle, A, Villavicencio-Lorini, P, Lausch, E, Vetter, B, Schwab, K O, Tucci, S, Spiekerkoetter, U
Published in BMC medical genetics (30.07.2015)
Published in BMC medical genetics (30.07.2015)
Get full text
Journal Article
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment
Schlump, J.-U., Perot, C., Ketteler, K., Schiff, M., Mayatepek, E., Wendel, U., Spiekerkoetter, U.
Published in Journal of inherited metabolic disease (01.12.2008)
Published in Journal of inherited metabolic disease (01.12.2008)
Get full text
Journal Article
Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress
Spiekerkoetter, U., Tokunaga, C., Wendel, U., Mayatepek, E., Exil, V., Duran, M., Wijburg, F. A., Wanders, R. J. A., Strauss, A. W.
Published in European journal of clinical investigation (01.03.2004)
Published in European journal of clinical investigation (01.03.2004)
Get full text
Journal Article
Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn Screening
Spiekerkoetter, U., Mueller, M., Sturm, M., Hofmann, M., Schneider, D. T.
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
Get full text
Book Chapter
Journal Article
Carnitine supplementation induces long‐chain acylcarnitine production—Studies in the VLCAD‐deficient mouse
Liebig, M., Gyenes, M., Brauers, G., Ruiter, J. P. N., Wendel, U., Mayatepek, E., Strauss, A. W., Wanders, R. J. A., Spiekerkoetter, U.
Published in Journal of inherited metabolic disease (01.04.2006)
Published in Journal of inherited metabolic disease (01.04.2006)
Get full text
Journal Article
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2
SPIEKERKOETTER, U, HUENER, G, BAYKAL, T, DEMIRKOL, M, DURAN, M, WANDERS, R, NEZU, J, MAYATEPEK, E
Published in Journal of inherited metabolic disease (01.01.2003)
Published in Journal of inherited metabolic disease (01.01.2003)
Get full text
Journal Article
Immunoglobulin Isotype Profile of Tissue Transglutaminase Autoantibodies is Correlated with the Clinical Presentation of Coeliac Disease
Schilling, J., Spiekerkoetter, U., Wohlrab, U., Wendel, U., Seissler, J.
Published in Scandinavian journal of immunology (01.02.2005)
Published in Scandinavian journal of immunology (01.02.2005)
Get full text
Journal Article
Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2
Spiekerkoetter, U., Huener, G., Baykal, T., Demirkol, M., Duran, M., Wanders, R., Nezu, J., Mayatepek, E.
Published in Journal of inherited metabolic disease (01.09.2003)
Published in Journal of inherited metabolic disease (01.09.2003)
Get full text
Journal Article
Research activity and capability in the European reference network MetabERN
Heard, Jean-Michel, Bellettato, Cinzia, van Lingen, Corine, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (29.05.2019)
Published in Orphanet journal of rare diseases (29.05.2019)
Get full text
Journal Article
Web Resource
General mitochondrial trifunctional protein (TFP) deficiency as a result of either α- or β-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover
SPIEKERKOETTER, Ute, KHUCHUA, Zaza, ZOU YUE, BENNETT, Michael J, STRAUSS, Arnold W
Published in Pediatric research (01.02.2004)
Published in Pediatric research (01.02.2004)
Get full text
Journal Article
Diagnosis of glutathione synthetase deficiency in newborn screening
Simon, E., Vogel, M., Fingerhut, R., Ristoff, E., Mayatepek, E., Spiekerkötter, U.
Published in Journal of inherited metabolic disease (01.12.2009)
Published in Journal of inherited metabolic disease (01.12.2009)
Get full text
Journal Article