172 results on '"Jans, Judith J. M."'
Search Results
2. One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study
3. Untargeted Metabolomics: Next-Generation Metabolic Screening
4. Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome
5. Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes
6. A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease
7. Metabolic blood profile and response to treatment with the pyruvate kinase activator mitapivat in patients with sickle cell disease.
8. Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes.
9. Metabolic Alterations in NADSYN1-Deficient Cells
10. PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
11. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases
12. MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy
13. A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease.
14. Abnormal glucose homeostasis and fasting intolerance in patients with congenital porto-systemic shunts
15. MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data
16. A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy
17. Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants
18. Metabolic Alterations in NADSYN1-Deficient Cells
19. One-year safety and efficacy of mitapivat in sickle cell disease: follow-up results of a phase 2, open-label study
20. PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening
21. A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases
22. Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome
23. The malate-aspartate shuttle is important for de novo serine biosynthesis
24. Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants
25. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
26. Parasitic, bacterial, viral, immune-mediated, metabolic and nutritional factors associated with nodding syndrome.
27. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
28. A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
29. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
30. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
31. Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: a phase 2, open-label study
32. Untargeted metabolic analysis in dried blood spots reveals metabolic signature in 22q11.2 deletion syndrome
33. Safety and efficacy of mitapivat, an oral pyruvate kinase activator, in sickle cell disease: A phase 2, open‐label study
34. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
35. Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
36. Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy
37. Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity
38. Inborn disorders of the malate aspartate shuttle
39. Distinct Metabolomic Signatures in Preclinical and Obstructive Hypertrophic Cardiomyopathy
40. Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers
41. Inborn disorders of the malate aspartate shuttle
42. Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers
43. MetaboShiny: interactive analysis and metabolite annotation of mass spectrometry-based metabolomics data
44. Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity
45. News and views
46. Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics
47. Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling
48. Inborn errors of enzymes in glutamate metabolism
49. Discovery of pyridoxal reductase activity as part of human vitamin B6 metabolism
50. Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid
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