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1. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

2. Effect of Anti-Iduronate 2-Sulfatase Antibodies in Patients with Mucopolysaccharidosis Type II Treated with Enzyme Replacement Therapy.

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3. Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.

4. Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

5. A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

6. First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

7. Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.

8. Newborn screening for hunter disease: a small-scale feasibility study.

9. Residual α-L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.

10. Up to five years experience with 11 mucopolysaccharidosis type VI patients.

11. Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

12. Rapid ultraperformance liquid chromatography-tandem mass spectrometry assay for a characteristic glycogen-derived tetrasaccharide in Pompe disease and other glycogen storage diseases.

13. Bone, joint and tooth development in mucopolysaccharidoses: relevance to therapeutic options.

14. Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

15. Hemoglobin precipitation greatly improves 4-methylumbelliferone-based diagnostic assays for lysosomal storage diseases in dried blood spots.

16. Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

17. Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.

18. Sanfilippo syndrome: a mini-review.

19. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

20. Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.

21. Selection and characterisation of a xylitol-derepressed Aspergillus niger mutant that is apparently impaired in xylitol transport.

22. Persistent 5-oxoprolinuria with normal glutathione synthase and 5-oxoprolinase activities.

23. Metabolic control analysis of Aspergillus niger L-arabinose catabolism.

24. Increased NADPH concentration obtained by metabolic engineering of the pentose phosphate pathway in Aspergillus niger.

25. External quality assurance programme for enzymatic analysis of lysosomal storage diseases: a pilot study.

26. Isolation of a fluffy mutant of Aspergillus niger from chemostat culture and its potential use as a morphologically stable host for protein production.

27. Aspergillus niger mstA encodes a high-affinity sugar/H+ symporter which is regulated in response to extracellular pH.

28. Characterization of nerolidol biotransformation based on indirect on-line estimation of biomass concentration and physiological state in batch cultures of Aspergillus niger.

29. Mannitol is required for stress tolerance in Aspergillus niger conidiospores.

30. Glycerol dehydrogenase, encoded by gldB is essential for osmotolerance in Aspergillus nidulans.

31. Onset of carbon catabolite repression in Aspergillus nidulans. Parallel involvement of hexokinase and glucokinase in sugar signaling.

32. Intracellular pH homeostasis in the filamentous fungus Aspergillus niger.

33. The Aspergillus niger D-xylulose kinase gene is co-expressed with genes encoding arabinan degrading enzymes, and is essential for growth on D-xylose and L-arabinose.

34. Properties of Aspergillus niger citrate synthase and effects of citA overexpression on citric acid production.

35. Measurement of intracellular (compartmental) pH by 31P NMR in Aspergillus niger.

36. Characterization of Aspergillus niger phosphoglucose isomerase. Use for quantitative determination of erythrose 4-phosphate.

37. Cloning and biochemical characterisation of Aspergillus niger hexokinase--the enzyme is strongly inhibited by physiological concentrations of trehalose 6-phosphate.

38. Carbon repression in Aspergilli.

39. Overexpression of phosphofructokinase and pyruvate kinase in citric acid-producing Aspergillus niger.

40. Cloning and biochemical characterisation of an Aspergillus niger glucokinase. Evidence for the presence of separate glucokinase and hexokinase enzymes.

41. Characterisation of the Aspergillus nidulans frA1 mutant: hexose phosphorylation and apparent lack of involvement of hexokinase in glucose repression.

42. An extreme creA mutation in Aspergillus nidulans has severe effects on D-glucose utilization.

43. Analysis of mutations that uncouple transport from phosphorylation in enzyme IIGlc of the Escherichia coli phosphoenolpyruvate-dependent phosphotransferase system.

44. Energetics of glucose uptake in a Salmonella typhimurium mutant containing uncoupled enzyme IIGlc.

45. Adaptation of Salmonella typhimurium mutants containing uncoupled enzyme IIGlc to glucose-limited conditions.