403 results on '"IJlst, Lodewijk"'
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2. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
3. Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein
4. Human peroxisomal NAD+/NADH homeostasis is regulated by two independent NAD(H) shuttle systems
5. Tracer‐based lipidomics enables the discovery of disease‐specific candidate biomarkers in mitochondrial β‐oxidation disorders
6. Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution
7. Tracer-based lipidomics identifies novel disease-specific biomarkers in mitochondrial β-oxidation disorders
8. Peroxisomal NAD(H) Homeostasis in the Yeast Debaryomyces hansenii Depends on Two Redox Shuttles and the NAD+ Carrier, Pmp47
9. Maintenance of cellular vitamin B 6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein
10. Human peroxisomal NAD+/NADH homeostasis is regulated by two independent NAD(H) shuttle systems
11. Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model
12. Peroxisomal D-hydroxyacyl-CoA Dehydrogenase Deficiency: Resolution of the Enzyme Defect and Its Molecular Basis in Bifunctional Protein Deficiency
13. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle
14. Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease
15. Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose
16. Peroxisomal NAD(H) Homeostasis in the Yeast Debaryomyces hansenii Depends on Two Redox Shuttles and the NAD + Carrier, Pmp47.
17. N -lactoyl-amino acids are ubiquitous metabolites that originate from CNDP2-mediated reverse proteolysis of lactate and amino acids
18. Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency
19. Prediction of phenotypic severity in mucopolysaccharidosis type IIIA
20. Transient decrease of hepatic NAD+ and amino acid alterations during treatment with valproate: new insights on drug-induced effects in vivo using targeted MS-based metabolomics
21. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
22. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
23. Peroxisomal ATP Uptake Is Provided by Two Adenine Nucleotide Transporters and the ABCD Transporters
24. Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
25. Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models
26. Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases
27. Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation
28. Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer
29. Correction to:An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine, (2021), 23, 4, (740-750), 10.1038/s41436-020-01027-3)
30. Peroxisomal ATP uptake is managed by the ABC transporters and two adenine nucleotide transporters
31. Inhibition of 3-methylcrotonyl-CoA carboxylase explains the increased excretion of 3-hydroxyisovaleric acid in valproate-treated patients
32. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
33. The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
34. Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer
35. Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation
36. Peroxisomal Metabolite and Cofactor Transport in Humans
37. Fatty acid oxidation in the human fetus: Implications for fetal and adult disease
38. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
39. Electrophysiological abnormalities in VLCAD deficient hiPSC-cardiomyocytes can be improved by lowering accumulation of fatty acid oxidation intermediates
40. Nutritional ketosis improves exercise metabolism in patients with very long-chain acyl-CoA dehydrogenase deficiency
41. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme a dehydrogenase deficiency
42. The Saccharomyces cerevisiae ABC subfamily D transporter Pxa1/Pxa2p co‐imports CoASH into the peroxisome
43. Necrotizing Enterocolitis and Respiratory Distress Syndrome as First Clinical Presentation of Mitochondrial Trifunctional Protein Deficiency
44. 3-Methylglutaconic aciduria type I is caused by mutations in AUH. (Report)
45. In silicio search for genes encoding peroxisomal proteins in Saccharomyces cerevisiae
46. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients
47. Genistein in Sanfilippo disease: A randomized controlled crossover trial
48. Fatal Hepatic Short-Chain L-3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency: Clinical, Biochemical, and Pathological Studies on Three Subjects with This Recently Identified Disorder of Mitochondrial β-Oxidation
49. Valproic acid utilizes the isoleucine breakdown pathway for its complete β-oxidation
50. Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates
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