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Journal of Inherited Metabolic Disease|April 26, 2007
Effects of a fat load and exercise on asymptomatic VLCAD deficiencyU SpiekerkoetterHormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme|May 3, 2002
General screening for celiac disease is advisable in children with type 1 diabetesU Spiekerkoetter, J Seissler, U WendelPediatric Cardiology|November 29, 2002
Cardiomyopathy and pericardial effusion in infancy point to a fatty acid b-oxidation defect after exclusion of an underlying infectionU Spiekerkoetter, T Tenenbaum, A Heusch, et al.Journal of Inherited Metabolic Disease|February 7, 2012
Single dose NTBC-treatment of hereditary tyrosinemia type IA Schlune, E Thimm, D Herebian, et al.Scandinavian Journal of Immunology|February 3, 2005
Immunoglobulin isotype profile of tissue transglutaminase autoantibodies is correlated with the clinical presentation of coeliac diseaseJ Schilling, U Spiekerkoetter, U Wohlrab, et al.JIMD Reports|February 23, 2013
Lethal Undiagnosed Very Long-Chain Acyl-CoA Dehydrogenase Deficiency with Mild C14-Acylcarnitine Abnormalities on Newborn ScreeningU Spiekerkoetter, M Mueller, M Sturm, et al.Journal of Inherited Metabolic Disease|May 27, 2008
Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatmentJ-U Schlump, C Perot, K Ketteler, et al.Journal of Inherited Metabolic Disease|November 8, 2003
Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2U Spiekerkoetter, G Huener, T Baykal, et al.BMC Medical Genetics|July 31, 2015
Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screeningSarah C Grünert, A Wehrle, P Villavicencio-Lorini, et al.Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme|November 1, 2006
Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient miceU Spiekerkoetter, J Ruiter, C Tokunaga, et al.Pageof 2