1,664 results on '"Wanders, R J"'
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2. Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy
3. Polyunsaturated fatty acid status in treated isovaleric acidemia patients
4. D-Hydroxyacyl-CoA Dehydrogenase Deficiency : Identification of a New Peroxisomal Disorder with Implications for Other Disorders of β-Oxidation
5. Phytanoyl-CoA Hydroxylase Deficiency : Enzymological and Molecular Basis of Classical Refsum Disease
6. Identification of a Missense Mutation in a Patient with Lethal Carnitine Acyl-Carnitine Carrier Deficiency
7. Rapid Diagnosis of Organic Acidemias and Fatty-acid Oxidation Defects by Quantitative Electrospray Tandem-MS Acyl-Carnitine Analysis in Plasma
8. Functions and Dysfunctions of Peroxisomes in Fatty Acid α- and β-Oxidation : New Insights
9. Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
10. Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
11. Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients
12. Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts
13. Diagnostic work-up of a peroxisomal patient
14. Infantile Refsumsche Erkrankung — Eine peroxisomale Störung mit charakteristischem klinischen Bild
15. Peroxisomal Disorders
16. Clinical variability of isovaleric acidemia in a genetically homogeneous population
17. Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails
18. Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids
19. Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review
20. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency
21. Phytanic acid impairs mitochondrial respiration through protonophoric action
22. Phytanic acid: production from phytol, its breakdown and role in human disease
23. Farnesylation of Pex19p is not essential for peroxisome biogenesis in yeast and mammalian cells
24. A novel assay for the prenatal diagnosis of Sjögren–Larsson syndrome
25. Defekt der langkettigen 3-Hydroxy-Acyl-CoA-Dehydrogenase—LCHAD-Defekt: 2-Jahres-Verlauf von 2 im Neugeborenenscreening detektierten Patienten
26. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
27. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots
28. Een pasgeborene met een zeldzame oorzaak van cholestase: een peroxisomale ziekte
29. Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency
30. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
31. Galactosemie in Nederland, opnieuw beschouwd
32. Fatty acid metabolism in Saccharomyces cerevisiae
33. Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium-chain triglycerides
34. Clinical features of galactokinase deficiency:A review of the literature
35. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency
36. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
37. Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
38. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
39. Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome
40. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
41. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene
42. Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders
43. Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency
44. Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls
45. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings
46. Role of side-chain amidation for the anticholestatic action of nourursodeoxycholic acid in rat liver
47. Bile acid abnormalities in peroxisomal disorders
48. Free fatty acids and acylcarnitines profiling in rat to elucidate drug-induced steatosis: P12-17
49. The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)
50. Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1α gene
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