Spiekerkoetter, Ute

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Mayorandan, S., Meyer, U., Gokcay, G., Segarra, N. G., de Baulny, H. O., van Spronsen, F., Zeman, J., de Laet, C., Spiekerkoetter, U., Thimm, E., et al. (2014) · Orphanet Journal of Rare Diseases

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 131

Neurocognitive outcome in patients with hypertyrosinemia type I after long‐term treatment with NTBC

Thimm, E., Richter‐Werkle, R., Kamp, G., Molke, B., Herebian, D., Klee, D., Mayatepek, E., & Spiekerkoetter, U. (2012) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 79

Increase of CSF tyrosine and impaired serotonin turnover in tyrosinemia type I

Thimm, E., Herebian, D., Assmann, B., Klee, D., Mayatepek, E., & Spiekerkoetter, U. (2011) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 55

Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism

Cheng, Y., Schlosser, P., Hertel, J., Sekula, P., Oefner, P. J., Spiekerkoetter, U., Mielke, J., Freitag, D. F., Schmidts, M., GCKD Investigators, et al. (2021) · Nature Communications

Metabolism and Genetic DisordersGenomics and Rare Diseases

Cited by 37

Single dose NTBC‐treatment of hereditary tyrosinemia type I

Schlune, A., Thimm, E., Herebian, D., & Spiekerkoetter, U. (2012) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 33

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment

Schlump, J. ‐., Perot, C., Ketteler, K., Schiff, M., Mayatepek, E., Wendel, U., & Spiekerkoetter, U. (2008) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 24

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1

Schlump, J.-U., Mayatepek, E., & Spiekerkoetter, U. (2010) · European Journal of Pediatrics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 13