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British Journal of Haematology|August 11, 2024
Vitamin B12 deficiency misdiagnosed as TTP: What can we learn from it?Bernhard Lämmle, Alexander Laemmle
JIMD Reports|March 23, 2016
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencyAlexander Laemmle, Tamar Stricker, Johannes Häberle
Molecular Genetics and Metabolism Reports|December 6, 2023
Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmationAdhuresa Ramosaj, Palak Singhal, André Schaller, et al.
Molecular Genetics and Metabolism|June 30, 2024
Inborn errors of the malate aspartate shuttle - Update on patients and cellular modelsJasmine Koch, Melissa H Broeks, Matthias Gautschi, et al.
European Journal of Pediatrics|June 12, 2014
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathyAlexander Laemmle, Christian Balmer, Carsten Doell, et al.
Clinical Biochemistry|November 15, 2025
Pre-analytical considerations in the simultaneous quantification of ketone bodies, lactate, pyruvate and TCA cycle intermediatesKaitlyn Berchier, Chiara Nyffeler, Stephen Bruce, et al.
Molecular Genetics and Metabolism|February 3, 2015
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantationAlexander Laemmle, Dagmar Hahn, Liyan Hu, et al.
Plos One|April 13, 2016
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)Alexander Laemmle, Renata C Gallagher, Adrian Keogh, et al.
Molecular Genetics and Metabolism Reports|March 1, 2024
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiencyDéborah Mathis, Jasmine Koch, Sophie Koller, et al.
Hepatology (Baltimore, Md.)|November 17, 2021
Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiencyAlexander Laemmle, Martin Poms, Bernadette Hsu, et al.
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