1,162 results on '"Wanders, R. J. A."'
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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. Free fatty acids and acylcarnitines profiling in rat to elucidate drug-induced steatosis: P12-17
40. Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome
41. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
42. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene
43. Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders
44. Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency
45. Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls
46. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings
47. Role of side-chain amidation for the anticholestatic action of nourursodeoxycholic acid in rat liver
48. Bile acid abnormalities in peroxisomal disorders
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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