487 results on '"Wanders, R J"'
Search Results
2. Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency
3. Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall
4. Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
5. A novel assay for the prenatal diagnosis of Sjögren-Larsson syndrome
6. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots
7. Straight-chain acyl-CoA oxidase deficiency presenting with dysmorphia, neurodevelopmental autistic-type regression and a selective pattern of leukodystrophy
8. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
9. Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: Evidence for a Distinct peroxisomal pristanyl-CoA oxidase
10. Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides
11. High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal-maternal disease
12. 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
13. Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
14. Clinical features of galactokinase deficiency: A review of the literature
15. 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man
16. Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
17. Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
18. Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D
19. A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity
20. Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders
21. Phytanic acid α-oxidation in man: Identification of 2-hydroxyphytanoyl-CoA lyase, a peroxisomal enzyme with normal activity in Zellweger syndrome
22. Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene
23. Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome
24. Prenatal Diagnosis of Zellweger Syndrome by Direct Visualization of Peroxisomes in Chorionic Villus Fibroblasts by Immunofluorescence Microscopy
25. Familial NADH: Q1 Oxidoreductase (Complex I) Deficiency: Variable Expression and Possible Treatment
26. Clinical variability of isovaleric acidemia in a genetically homogeneous population
27. Zellweger syndrome with unusual findings: non‐immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails
28. A novel assay for the prenatal diagnosis of Sjögren–Larsson syndrome
29. Potential of fibrates in the treatment of fatty acid oxidation disorders: Revival of classical drugs?
30. Carnitine supplementation induces long‐chain acylcarnitine production—Studies in the VLCAD‐deficient mouse
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 C 4 ‐carnitine in newborn blood spots
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. Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Neonatal manifestation at the first day of life presenting with tachypnoea
36. Spontaneous pregnancy in a patient with classical galactosaemia
37. Disorders of mitochondrial fatty acyl-CoA β-oxidation
38. X‐linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
39. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects
40. Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders
41. DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency
42. Molecular basis of Sjögren-Larsson syndrome: Frequency of the 1297-1298 del GA and 943C→T mutation in 29 patients
43. Carnitine-acylcarnitine translocase deficiency is a treatable disease
44. Disorders of peroxisome biogenesis: Complementation analysis shows genetic heterogeneity with strong overrepresentation of one group (PEX1 deficiency)
45. Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
46. The metabolism of phytanic acid and pristanic acid in man: A review
47. Lactic acidosis in long-chain fatty acid β-oxidation disorders
48. L-2-Hydroxyglutaric aciduria and lactic acidosis
49. Identification of the newly discovered 58kDa peroxisomal thiolase SCPx as the main thiolase involved in both pristanic acid and trihydroxycholestanoic acid oxidation: Implications for peroxisomal β-oxidation disorders
50. Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA
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