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

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

4. Omics Profiling of S2P Mutant Fibroblasts as a Mean to Unravel the Pathomechanism and Molecular Signatures of X-Linked MBTPS2 Osteogenesis Imperfecta

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

6. Aquaporin 9 Induction in Human iPSC‐derived Hepatocytes Facilitates Modeling of Ornithine Transcarbamylase Deficiency

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

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

9. ROLE OF ECTOPIC EXPRESSION OF UREA CYCLE ENZYMES IN COMMON MALIGNANCIES

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

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

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

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

15. Multiomics tools for the diagnosis and treatment of rare neurological disease

16. Understanding GPCR Recognition and Folding from NMR Studies of Fragments

17. 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

18. 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

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