2,014 results on '"Wanders R"'
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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. UNTARGETED CROSSOMICS IN A DIAGNOSTIC SETTING: Mon, 23 h16.30 - Biomarkers in clinical chemistry - The omics galaxies
10. Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder
11. Clinical neurological outcome and quality of life among patients with limited small-cell cancer treated with two different doses of prophylactic cranial irradiation in the intergroup phase III trial (PCI99-01, EORTC 22003-08004, RTOG 0212 and IFCT 99-01)
12. Measurement of dihydroxyacetone-phosphate acyltransferase (DHAPAT) in chorionic villous samples, blood cells and cultured cells
13. Immunoblot analysis of peroxisomal proteins in liver and fibroblasts from patients
14. Measurement of peroxisomal fatty acid β-oxidation in cultured human skin fibroblasts
15. Diagnostic work-up of a peroxisomal patient
16. FLASH in the Clinic Track (Oral Presentations) SHOOT-THROUGH PROTON FLASH FOR NEUROLOGICAL TUMORS LIMITS UNCERTAINTIES IN (BIOLOGICAL EFFECTIVE) DOSE
17. Infantile Refsumsche Erkrankung — Eine peroxisomale Störung mit charakteristischem klinischen Bild
18. Peroxisomal Disorders
19. Eligibility for concurrent chemotherapy and radiotherapy of locally advanced lung cancer patients: a prospective, population-based study
20. Clinical variability of isovaleric acidemia in a genetically homogeneous population
21. Radiation-induced oesophagitis in lung cancer patients: Is susceptibility for neutropenia a risk factor?
22. Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails
23. Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids
24. Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review
25. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency
26. Phytanic acid impairs mitochondrial respiration through protonophoric action
27. Phytanic acid: production from phytol, its breakdown and role in human disease
28. Farnesylation of Pex19p is not essential for peroxisome biogenesis in yeast and mammalian cells
29. A novel assay for the prenatal diagnosis of Sjögren–Larsson syndrome
30. Defekt der langkettigen 3-Hydroxy-Acyl-CoA-Dehydrogenase—LCHAD-Defekt: 2-Jahres-Verlauf von 2 im Neugeborenenscreening detektierten Patienten
31. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
32. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots
33. Een pasgeborene met een zeldzame oorzaak van cholestase: een peroxisomale ziekte
34. Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency
35. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
36. Galactosemie in Nederland, opnieuw beschouwd
37. Fatty acid metabolism in Saccharomyces cerevisiae
38. Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium-chain triglycerides
39. Clinical features of galactokinase deficiency:A review of the literature
40. A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency
41. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
42. Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
43. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
44. Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia
45. Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome
46. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
47. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene
48. Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders
49. Hepatic peroxisomes in isolated hyperpipecolic acidaemia: evidence supporting its classification as a single peroxisomal enzyme deficiency
50. Secondary respiratory chain defect in a boy with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: possible diagnostic pitfalls
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