Concepedia
Statistics
Publications
6
Citations
253
H-Index
Active since
2018
Affiliations
University Children's Hospital Zurich(Current)
University of Zurich
Medical University of Graz
University of Bern
ETH Zurich
Martin Poms is an author at University Children's Hospital Zurich.
Publications per year
2018–2023
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl et al. · European Journal of Human Genetics · 2018 · 71 citations · Full text
New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency
Lisa M. Crowther, Déborah Mathis, Martin Poms et al. · Journal of Inherited Metabolic Disease · 2019 · 56 citations · Full text
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency
Patrick Forny, Ximena Bonilla, David Lamparter et al. · Nature Metabolism · 2023 · 50 citations · Full text
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 et al. · Molecular Genetics and Metabolism · 2021 · 32 citations · Full text
Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency
Alexander Laemmle, Martin Poms, Bernadette Y. Hsu et al. · Hepatology · 2021 · 23 citations · Full text
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