Martin Poms

Affiliations

Division of Clinical Chemistry and Biochemistry and Children's Research Center, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.

Publications (15)

Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.

Orphanet journal of rare diseases

Avec: Barbara Siri , Giorgia Olivieri , Francesca Romana Lepri , Martin Poms , Bianca Maria Goffredo , Anna Commone , Antonio Novelli , Johannes Häberle , Carlo Dionisi-Vici

New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.

Journal of inherited metabolic disease

Avec: Lisa M Crowther , Déborah Mathis , Martin Poms , Barbara Plecko

Cystic fibrosis newborn screening in Switzerland - evaluation and scenarios for improvement after 11 years of follow-up.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society

Avec: Esl Pedersen , C M de Jong Carmen , M Jurca , D O Berger , J Sanz , Shm Sluka , M Poms , M R Baumgartner , N Regamey , C E Kuehni , J Barben , C S Rueegg , Auteur inconnu

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.

Journal of inherited metabolic disease

Avec: Tamara Mathis , Martin Poms , Harald Köfeler , Matthias Gautschi , Barbara Plecko , Matthias R Baumgartner , Michel Hochuli

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine-dependent epilepsy.

Journal of inherited metabolic disease

Avec: Lisa M Crowther , Martin Poms , Martina Zandl-Lang , Lucia Abela , Hans Hartmann , Michelle Seiler , Déborah Mathis , Barbara Plecko

Expression and function of the urea cycle in widely-used hepatic cellular models.

Journal of inherited metabolic disease

Avec: Georgios Makris , Lara Veit , Véronique Rüfenacht , Sven Klassa , Nadia Zürcher , Shirou Matsumoto , Martin Poms , Johannes Häberle

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.

European journal of human genetics : EJHG

Avec: Sorina M Papuc , Lucia Abela , Katharina Steindl , Anaïs Begemann , Thomas L Simmons , Bernhard Schmitt , Markus Zweier , Beatrice Oneda , Eileen Socher , Lisa M Crowther , Gabriele Wohlrab , Laura Gogoll , Martin Poms , Michelle Seiler , Michael Papik , Rosa Baldinger , Alessandra Baumer , Reza Asadollahi , Judith Kroell-Seger , Regula Schmid , Tobias Iff , Thomas Schmitt-Mechelke , Karoline Otten , Annette Hackenberg , Marie-Claude Addor , Andrea Klein , Silvia Azzarello-Burri , Heinrich Sticht , Pascal Joset , Barbara Plecko , Anita Rauch

Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked

Frontiers in genetics

Avec: Pei Jin Lim , Severin Marfurt , Uschi Lindert , Lennart Opitz , Timothée Ndarugendamwo , Pakeerathan Srikanthan , Martin Poms , Martin Hersberger , Claus-Dieter Langhans , Dorothea Haas , Marianne Rohrbach , Cecilia Giunta

Improved diagnostics of purine and pyrimidine metabolism disorders using LC-MS/MS and its clinical application.

Clinical chemistry and laboratory medicine

Avec: Alessio Cremonesi , David Meili , Anahita Rassi , Martin Poms , Barbara Tavazzi , Václava Škopová , Johannes Häberle , Marie Zikánová , Martin Hersberger

The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery.

Molecular genetics and metabolism

Avec: Mary Gonzalez Melo , Noémie Remacle , Hong-Phuc Cudré-Cung , Clothilde Roux , Martin Poms , Cristina Cudalbu , Madalena Barroso , Søren Waldemar Gersting , René Günther Feichtinger , Johannes Adalbert Mayr , Michele Costanzo , Marianna Caterino , Margherita Ruoppolo , Véronique Rüfenacht , Johannes Häberle , Olivier Braissant , Diana Ballhausen

Aquaporin 9 induction in human iPSC-derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency.

Hepatology (Baltimore, Md.)

Avec: Alexander Laemmle , Martin Poms , Bernadette Hsu , Mariia Borsuk , Véronique Rüfenacht , Joshua Robinson , Martin C Sadowski , Jean-Marc Nuoffer , Johannes Häberle , Holger Willenbring

Gene Therapy in Combination with Nitrogen Scavenger Pretreatment Corrects Biochemical and Behavioral Abnormalities of Infant Citrullinemia Type 1 Mice.

International journal of molecular sciences

Avec: Andrea Bazo , Aquilino Lantero , Itsaso Mauleón , Leire Neri , Martin Poms , Johannes Häberle , Ana Ricobaraza , Bernard Bénichou , Jean-Philippe Combal , Gloria Gonzalez-Aseguinolaza , Rafael Aldabe

Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.

Nature metabolism

Avec: Patrick Forny , Ximena Bonilla , David Lamparter , Wenguang Shao , Tanja Plessl , Caroline Frei , Anna Bingisser , Sandra Goetze , Audrey van Drogen , Keith Harshman , Patrick G A Pedrioli , Cedric Howald , Martin Poms , Florian Traversi , Céline Bürer , Sarah Cherkaoui , Raphael J Morscher , Luke Simmons , Merima Forny , Ioannis Xenarios , Ruedi Aebersold , Nicola Zamboni , Gunnar Rätsch , Emmanouil T Dermitzakis , Bernd Wollscheid , Matthias R Baumgartner , D Sean Froese

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.

International journal of neonatal screening

Avec: Stella Knöpfli , Bernadette Goeschl , Maximilian Zeyda , Anna Baghdasaryan , Margot Baumgartner-Kaut , Matthias R Baumgartner , Marion Herle , Julian Margreitter , Martin Poms , Saskia B Wortmann , Vassiliki Konstantopoulou , Martina Huemer

GLUD1 determines murine muscle stem cell fate by controlling mitochondrial glutamate levels.

Developmental cell

Avec: Inés Soro-Arnáiz , Gillian Fitzgerald , Sarah Cherkaoui , Jing Zhang , Paola Gilardoni , Adhideb Ghosh , Ori Bar-Nur , Evi Masschelein , Pierre Maechler , Nicola Zamboni , Martin Poms , Alessio Cremonesi , Juan Carlos Garcia-Cañaveras , Katrien De Bock , Raphael Johannes Morscher

Réseau de co-auteurs

Johannes Häberle 6 collaborations

Barbara Plecko 4 collaborations

Lisa M Crowther 3 collaborations

Matthias R Baumgartner 3 collaborations

Véronique Rüfenacht 3 collaborations

Déborah Mathis 2 collaborations

Lucia Abela 2 collaborations

Michelle Seiler 2 collaborations

Martin Hersberger 2 collaborations

Alessio Cremonesi 2 collaborations

Sarah Cherkaoui 2 collaborations

Nicola Zamboni 2 collaborations

Barbara Siri 1 collaboration

Giorgia Olivieri 1 collaboration

Francesca Romana Lepri 1 collaboration

Bianca Maria Goffredo 1 collaboration

Anna Commone 1 collaboration

Antonio Novelli 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Esl Pedersen 1 collaboration

C M de Jong Carmen 1 collaboration

M Jurca 1 collaboration

D O Berger 1 collaboration

J Sanz 1 collaboration

Shm Sluka 1 collaboration

M Poms 1 collaboration

M R Baumgartner 1 collaboration

N Regamey 1 collaboration

C E Kuehni 1 collaboration

J Barben 1 collaboration

C S Rueegg 1 collaboration

None None 1 collaboration

Tamara Mathis 1 collaboration

Harald Köfeler 1 collaboration

Matthias Gautschi 1 collaboration

Michel Hochuli 1 collaboration

Martina Zandl-Lang 1 collaboration

Hans Hartmann 1 collaboration

Georgios Makris 1 collaboration

Lara Veit 1 collaboration

Sven Klassa 1 collaboration

Nadia Zürcher 1 collaboration

Shirou Matsumoto 1 collaboration

Sorina M Papuc 1 collaboration

Katharina Steindl 1 collaboration

Anaïs Begemann 1 collaboration

Thomas L Simmons 1 collaboration

Bernhard Schmitt 1 collaboration

Markus Zweier 1 collaboration

Beatrice Oneda 1 collaboration

Eileen Socher 1 collaboration

Gabriele Wohlrab 1 collaboration

Laura Gogoll 1 collaboration

Michael Papik 1 collaboration

Rosa Baldinger 1 collaboration

Alessandra Baumer 1 collaboration

Reza Asadollahi 1 collaboration

Judith Kroell-Seger 1 collaboration

Regula Schmid 1 collaboration

Tobias Iff 1 collaboration

Thomas Schmitt-Mechelke 1 collaboration

Karoline Otten 1 collaboration

Annette Hackenberg 1 collaboration

Marie-Claude Addor 1 collaboration

Andrea Klein 1 collaboration

Silvia Azzarello-Burri 1 collaboration

Heinrich Sticht 1 collaboration

Pascal Joset 1 collaboration

Anita Rauch 1 collaboration

Pei Jin Lim 1 collaboration

Severin Marfurt 1 collaboration

Uschi Lindert 1 collaboration

Lennart Opitz 1 collaboration

Timothée Ndarugendamwo 1 collaboration

Pakeerathan Srikanthan 1 collaboration

Claus-Dieter Langhans 1 collaboration

Dorothea Haas 1 collaboration

Marianne Rohrbach 1 collaboration

Cecilia Giunta 1 collaboration

David Meili 1 collaboration

Anahita Rassi 1 collaboration

Barbara Tavazzi 1 collaboration

Václava Škopová 1 collaboration

Marie Zikánová 1 collaboration

Mary Gonzalez Melo 1 collaboration

Noémie Remacle 1 collaboration

Hong-Phuc Cudré-Cung 1 collaboration

Clothilde Roux 1 collaboration

Cristina Cudalbu 1 collaboration

Madalena Barroso 1 collaboration

Søren Waldemar Gersting 1 collaboration

René Günther Feichtinger 1 collaboration

Johannes Adalbert Mayr 1 collaboration

Michele Costanzo 1 collaboration

Marianna Caterino 1 collaboration

Margherita Ruoppolo 1 collaboration

Olivier Braissant 1 collaboration

Diana Ballhausen 1 collaboration

Alexander Laemmle 1 collaboration

Bernadette Hsu 1 collaboration

Mariia Borsuk 1 collaboration

Joshua Robinson 1 collaboration

Martin C Sadowski 1 collaboration

Jean-Marc Nuoffer 1 collaboration

Holger Willenbring 1 collaboration

Andrea Bazo 1 collaboration

Aquilino Lantero 1 collaboration

Itsaso Mauleón 1 collaboration

Leire Neri 1 collaboration

Ana Ricobaraza 1 collaboration

Bernard Bénichou 1 collaboration

Jean-Philippe Combal 1 collaboration

Gloria Gonzalez-Aseguinolaza 1 collaboration

Rafael Aldabe 1 collaboration

Patrick Forny 1 collaboration

Ximena Bonilla 1 collaboration

David Lamparter 1 collaboration

Wenguang Shao 1 collaboration

Tanja Plessl 1 collaboration

Caroline Frei 1 collaboration

Anna Bingisser 1 collaboration

Sandra Goetze 1 collaboration

Audrey van Drogen 1 collaboration

Keith Harshman 1 collaboration

Patrick G A Pedrioli 1 collaboration

Cedric Howald 1 collaboration

Florian Traversi 1 collaboration

Céline Bürer 1 collaboration

Raphael J Morscher 1 collaboration

Luke Simmons 1 collaboration

Merima Forny 1 collaboration

Ioannis Xenarios 1 collaboration

Ruedi Aebersold 1 collaboration

Gunnar Rätsch 1 collaboration

Emmanouil T Dermitzakis 1 collaboration

Bernd Wollscheid 1 collaboration

D Sean Froese 1 collaboration

Stella Knöpfli 1 collaboration

Bernadette Goeschl 1 collaboration

Maximilian Zeyda 1 collaboration

Anna Baghdasaryan 1 collaboration

Margot Baumgartner-Kaut 1 collaboration

Marion Herle 1 collaboration

Julian Margreitter 1 collaboration

Saskia B Wortmann 1 collaboration

Vassiliki Konstantopoulou 1 collaboration

Martina Huemer 1 collaboration

Inés Soro-Arnáiz 1 collaboration

Gillian Fitzgerald 1 collaboration

Jing Zhang 1 collaboration

Paola Gilardoni 1 collaboration

Adhideb Ghosh 1 collaboration

Ori Bar-Nur 1 collaboration

Evi Masschelein 1 collaboration

Pierre Maechler 1 collaboration

Juan Carlos Garcia-Cañaveras 1 collaboration

Katrien De Bock 1 collaboration

Raphael Johannes Morscher 1 collaboration