Publications by authors named "Martin Poms"

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Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.
Christina Kaufman, Julian Margreitter, Marion Herle, Walter Bonfig, Corinne Däster, Martin Poms

Nutrients· November 2025

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A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.
Stuti Bakshi, Taryn Diep, Brandon J Willis, Rachel Reyes, Grace F Wu, Martin Poms

Dis Model Mech· July 2025

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Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.
Gabriella Allegri, Martin Poms, Nadia Zürcher, Véronique Rüfenacht, Nicole Rimann

NPJ Metab Health Dis· May 2025

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Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.
Adhuresa Ramosaj, Mariia Borsuk, Jarl Underhaug, Déborah Mathis, Shirou Matsumoto, Martin Poms

J Inherit Metab Dis· May 2025

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Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria.
Matthew C S Denley, Monique S Straub, Giulio Marcionelli, Miriam A Güra, David Penton, Martin Poms

Commun Biol· March 2025

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Diagnostic delay in cerebral creatine deficiency disorders: lessons learned from a cross-sectional single center study, and guanidinoacetate and creatine measurements in Switzerland between 2015 and 2023.
Christina Kaufman, Anaïs D'Andrea, Annette Hackenberg, Martin Poms, Olivier Braissant

Mol Cell Pediatr· January 2025

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Expression and function of the urea cycle in widely-used hepatic cellular models.
Georgios Makris, Lara Veit, Véronique Rüfenacht, Sven Klassa, Nadia Zürcher, Martin Poms

J Inherit Metab Dis· November 2024

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GLUD1 determines murine muscle stem cell fate by controlling mitochondrial glutamate levels.
Inés Soro-Arnáiz, Gillian Fitzgerald, Sarah Cherkaoui, Jing Zhang, Paola Gilardoni, Martin Poms

Dev Cell· November 2024

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The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.
Stella Knöpfli, Bernadette Goeschl, Maximilian Zeyda, Anna Baghdasaryan, Margot Baumgartner-Kaut, Martin Poms

Int J Neonatal Screen· June 2024

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Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
Barbara Siri, Giorgia Olivieri, Francesca Romana Lepri, Martin Poms, Bianca Maria Goffredo

Orphanet J Rare Dis· January 2024

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Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.
Alessio Cremonesi, David Meili, Anahita Rassi, Martin Poms, Barbara Tavazzi

Clin Chem Lab Med· September 2023

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Impact of small molecule-mediated inhibition of ammonia detoxification on lung malignancies and liver metabolism.
Georgios Makris, Semih Kayhan, Marvin Kreuzer, Véronique Rüfenacht, Erica Faccin, Martin Poms

Cancer Commun (Lond)· April 2023

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Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.
Lisa M Crowther, Martin Poms, Martina Zandl-Lang, Lucia Abela, Hans Hartmann

J Inherit Metab Dis· January 2023

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Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Patrick Forny, Ximena Bonilla, David Lamparter, Wenguang Shao, Tanja Plessl, Martin Poms

Nat Metab· January 2023

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Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.
Andrea Bazo, Aquilino Lantero, Itsaso Mauleón, Leire Neri, Martin Poms

Int J Mol Sci· November 2022

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Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.
Alexander Laemmle, Martin Poms, Bernadette Hsu, Mariia Borsuk, Véronique Rüfenacht

Hepatology· September 2022

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Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.
Tamara Mathis, Martin Poms, Harald Köfeler, Matthias Gautschi, Barbara Plecko

J Inherit Metab Dis· March 2022

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The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.
Mary Gonzalez Melo, Noémie Remacle, Hong-Phuc Cudré-Cung, Clothilde Roux, Martin Poms

Mol Genet Metab· June 2021

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Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked Osteogenesis Imperfecta.
Pei Jin Lim, Severin Marfurt, Uschi Lindert, Lennart Opitz, Timothée Ndarugendamwo, Martin Poms

Front Genet· May 2021

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New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
Lisa M Crowther, Déborah Mathis, Martin Poms, Barbara Plecko

J Inherit Metab Dis· July 2019

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Sorina M Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas L Simmons, Martin Poms

Eur J Hum Genet· March 2019

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Understanding GPCR Recognition and Folding from NMR Studies of Fragments.
Jacopo Marino, Reto Walser, Martin Poms, Oliver Zerbe

RSC Adv· March 2018

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NMR Investigation of Structures of G-protein Coupled Receptor Folding Intermediates.
Martin Poms, Philipp Ansorge, Luis Martinez-Gil, Simon Jurt, Daniel Gottstein

J Biol Chem· December 2016

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Structural characterization of triple transmembrane domain containing fragments of a yeast G protein-coupled receptor in an organic : aqueous environment by solution-state NMR spectroscopy.
Katrina E Fracchiolla, Leah S Cohen, Boris Arshava, Martin Poms, Oliver Zerbe

J Pept Sci· March 2015

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