Martin Poms

Zurich, ZH, Switzerland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 29 publications

RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I.

RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I.

Journal: Science translational medicine

Published: May 13, 2026

The Role of Urea Cycle Functional Studies in Preclinical Research.

The Role of Urea Cycle Functional Studies in Preclinical Research.

Journal: Journal of inherited metabolic disease

Published: May 04, 2026

A hybrid piggyBac AAV-transposon and LNP-transposase for treating arginase deficiency: A 100-fold dose reduction compared to AAV alone.

A hybrid piggyBac AAV-transposon and LNP-transposase for treating arginase deficiency: A 100-fold dose reduction compared to AAV alone.

Journal: Molecular therapy : the journal of the American Society of Gene Therapy

Published: December 07, 2025

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.

Newborn Screening Alone Cannot Prevent Most Cases of Severe Vitamin B12 Deficiency in the First Year of Life.

Journal: Nutrients

Published: October 27, 2025

A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.

A hypomorphic model of CPS1 deficiency for investigating the effects of hyperammonemia on the developing nervous system.

Journal: Disease models & mechanisms

Published: January 25, 2025

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models.

Journal: Journal of inherited metabolic disease

Published: November 13, 2024

Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.

Characterization and treatment monitoring of ureagenesis disorders using stable isotopes.

Journal: npj metabolic health and disease

Published: November 04, 2024

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.

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.

Journal: Molecular and cellular pediatrics

Published: October 24, 2024

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

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

Journal: International journal of neonatal screening

Published: May 12, 2024

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria.

Mitochondrial dysfunction drives a neuronal exhaustion phenotype in methylmalonic aciduria.

Journal: Communications biology

Published: April 09, 2024

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

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

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

Published: December 15, 2023

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

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

Journal: Developmental cell

Published: November 09, 2023

Showing 1-12 of 29

Last Updated: 09/26/2026