526 results on '"Okun, Jürgen"'
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2. Interactions between the gut microbiome, associated metabolites and the manifestation and progression of heart failure with preserved ejection fraction in ZSF1 rats
3. Neuron–astrocyte metabolic coupling facilitates spinal plasticity and maintenance of inflammatory pain
4. Variable glucagon metabolic actions in diverse mouse models of obesity and type 2 diabetes
5. Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases
6. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
7. Newborn screening for aromatic l-amino acid decarboxylase deficiency – Strategies, results, and implication for prevalence calculations
8. ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
9. Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches
10. Potential of blood-based biomarker approaches in endometrium and breast cancer: a case-control comparison study
11. GFI1B acts as a metabolic regulator in hematopoiesis and acute myeloid leukemia
12. Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
13. Validated UPLC-MS/MS method for the analysis of vitamin B6 pyridoxal 5́-phosphate, pyridoxal, pyridoxine, pyridoxamine, and pyridoxic acid in human cerebrospinal fluid
14. Vps37a regulates hepatic glucose production by controlling glucagon receptor localization to endosomes
15. mRNA-based therapy proves superior to the standard of care for treating hereditary tyrosinemia 1 in a mouse model
16. Calorie restriction improves metabolic state independently of gut microbiome composition: a randomized dietary intervention trial
17. Wilson and Jungner Revisited: Are Screening Criteria Fit for the 21st Century?
18. Interactions between the gut microbiome, associated metabolites and the manifestation and progression of heart failure with preserved ejection fraction in ZSF1 rats
19. Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
20. Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
21. Liver alanine catabolism promotes skeletal muscle atrophy and hyperglycaemia in type 2 diabetes
22. Trimethylamine N-oxide in atrial fibrillation progression
23. Newborn Screening for Vitamin B12 Deficiency in Germany—Strategies, Results, and Public Health Implications
24. New Cases of Maleylacetoacetate Isomerase Deficiencywith Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center
25. Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis
26. Severity-adjusted evaluation of liver transplantation on health outcomes in Urea Cycle Disorders
27. 1H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy
28. Indoxyl sulfate associates with cardiovascular phenotype in children with chronic kidney disease
29. New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
30. ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
31. High Throughput Newborn Screening for Sickle Cell Disease – Application of Two-Tiered Testing with a qPCR-Based Primary screen
32. Semisynthetic sensor proteins enable metabolic assays at the point of care
33. Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
34. Simultaneous Serial Transverse Enteroplasty (STEP) in Size Mismatch Small Bowel Transplantations
35. Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis
36. Kidney urinary biomarkers in patients with branched‐chain amino acid and cobalamin metabolism defects
37. Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
38. Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
39. Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC)
40. Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
41. High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
42. Suppression of antitumor T cell immunity by the oncometabolite (R)-2-hydroxyglutarate
43. Urine levels of 5-aminoimidazole-4-carboxamide riboside (AICAR) in patients with type 2 diabetes
44. Impairment of astrocytic glutaminolysis in glutaric aciduria type I
45. Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
46. A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry
47. REDUCED BIOTINIDASE ACTIVITY IN PATIENTS WITH CONGENITAL DISORDERS OF GLYCOSYLATION (CDG): BIOTIN AS A NEW THERAPEUTIC APPROACH?
48. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1:third revision
49. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision
50. A product of immunoreactive trypsinogen and pancreatitis-associated protein as second-tier strategy in cystic fibrosis newborn screening
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