986 results on '"Wanders, Ronald J.A."'
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2. Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics
3. Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
4. Human peroxisomal NAD+/NADH homeostasis is regulated by two independent NAD(H) shuttle systems
5. Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein
6. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography
7. A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR)
8. Dietary restriction in the long-chain acyl-CoA dehydrogenase knockout mouse
9. An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
10. Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies
11. Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer
12. Metabolic interactions between peroxisomes and mitochondria with a special focus on acylcarnitine metabolism
13. Extending diagnostic practices in gyrate atrophy:Enzymatic characterization and the development of an in vitro pyridoxine responsiveness assay
14. Liver disease predominates in a mouse model for mild human Zellweger spectrum disorder
15. Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
16. Overexpression of carbamoyl-phosphate synthase 1 significantly improves ureagenesis of human liver HepaRG cells only when cultured under shaking conditions
17. Cardiolipin-deficient cells depend on anaplerotic pathways to ameliorate defective TCA cycle function
18. Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder
19. List of Contributors
20. Peroxisomal Disorders
21. Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment
22. AMC-Bio-Artificial Liver culturing enhances mitochondrial biogenesis in human liver cell lines: The role of oxygen, medium perfusion and 3D configuration
23. A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase
24. The malate-aspartate shuttle is important for de novo serine biosynthesis
25. Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder
26. Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy
27. Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders
28. Identification of enzymes involved in oxidation of phenylbutyrate
29. Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency
30. Contributors
31. Phytanic Acid Metabolism in Health and Disease
32. Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
33. Inborn Errors of Non-Mitochondrial Fatty Acid Metabolism Including Peroxisomal Disorders
34. CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids
35. The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice
36. Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios
37. Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics
38. Human disorders of peroxisome metabolism and biogenesis
39. Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy
40. Supplementary Tables 1-2 from Comparison of Kinome Profiles of Barrett's Esophagus with Normal Squamous Esophagus and Normal Gastric Cardia
41. Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation
42. Metabolite studies in HIBCH and ECHS1 defects: Implications for screening
43. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing
44. Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis
45. Peroxisomal Disorders
46. A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids
47. Metabolic functions of peroxisomes in health and disease
48. Very-Long-Chain Fatty Acids and Phytanic Acid
49. Plasmalogens and Polyunsaturated Fatty Acids
50. Peroxisomal Disorders
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