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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 and Cellular Biology|October 1, 2003
The yeast N(alpha)-acetyltransferase NatA is quantitatively anchored to the ribosome and interacts with nascent polypeptidesMatthias Gautschi, Sören Just, Andrej Mun, 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.Journal of Innate Immunity|April 20, 2026
Insights into neutrophil dysfunction in inherited metabolic disordersAnja Wolf, Giulia Montanelli, Déborah Mathis, et al.Clinical Biochemistry|March 31, 2015
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseasesGlynis Klinke, Marianne Rohrbach, Roberto Giugliani, et al.Orphanet Journal of Rare Diseases|December 5, 2024
A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE)Bénédicte Héron, Spyros Batzios, Eugen Mengel, et al.Journal of Medical Genetics|December 25, 2013
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiencyChristopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, et al.Journal of Sleep Research|March 19, 2024
Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial diseaseAlexander Breuss, Marco Strasser, Jean-Marc Nuoffer, et al.Developmental Medicine and Child Neurology|November 21, 2012
Basilar artery stroke in childhoodBarbara Goeggel Simonetti, Barbara Ritter, Matthias Gautschi, et al.Pageof 7