Search

Your search keyword '"George J. G. Ruijter"' showing total 80 results

Search Constraints

Start Over You searched for: Author "George J. G. Ruijter" Remove constraint Author: "George J. G. Ruijter" Publication Year Range Last 50 years Remove constraint Publication Year Range: Last 50 years
80 results on '"George J. G. Ruijter"'

Search Results

1. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

2. Monitoring phenylalanine concentrations in the follow‐up of phenylketonuria patients: An inventory of pre‐analytical and analytical variation

3. Benchmarking Outlier Detection Methods for Detecting IEM Patients in Untargeted Metabolomics Data

4. Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method

5. Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism

6. AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

7. Maternal Body Mass Index, Early-Pregnancy Metabolite Profile, and Birthweight

8. Uveal Melanoma Patients Have a Distinct Metabolic Phenotype in Peripheral Blood

9. Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders

10. The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

11. Associations of maternal and infant metabolite profiles with foetal growth and the odds of adverse birth outcomes

12. Associations of maternal bisphenol urine concentrations during pregnancy with neonatal metabolomic profiles

13. Prioritizing disease-causing metabolic genes by integrating metabolomics with whole exome sequencing data

14. Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation

15. Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives

16. Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing

17. Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity

18. Screening for inborn errors of metabolism using untargeted metabolomics and out-of-batch controls

19. Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

20. Hexb enzyme deficiency leads to lysosomal abnormalities in radial glia and microglia in zebrafish brain development

21. Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform

22. Paroxysmal exercise-induced dystonia within the phenotypic spectrum ofECHS1deficiency

23. Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

24. Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

25. Mucolipidosis type III, a series of adult patients

26. N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region

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

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

29. Continuous Age- and Sex-Adjusted Reference Intervals of Urinary Markers for Cerebral Creatine Deficiency Syndromes: A Novel Approach to the Definition of Reference Intervals

30. A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI

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

32. Rapid Ultraperformance Liquid Chromatography–Tandem Mass Spectrometry Assay for a Characteristic Glycogen-Derived Tetrasaccharide in Pompe Disease and Other Glycogen Storage Diseases

33. Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options

34. Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten

35. Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients

36. Mucopolysaccharidosis Type IIIA: Clinical Spectrum and Genotype-Phenotype Correlations

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

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

39. Polyol accumulation by Aspergillus oryzae at low water activity in solid-state fermentation

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

41. Isolation and characterization of two specific regulatory Aspergillus niger mutants shows antagonistic regulation of arabinan and xylan metabolism

42. Cyclic AMP-dependent protein kinase is involved in morphogenesis of Aspergillus niger a aThe EMBL accession number for the sequence reported in this paper is AJ296317

43. Intracellular pH homeostasis in the filamentous fungusAspergillus niger

44. Aspergillus oryzaein solid-state and submerged fermentations

45. Trehalose is required for the acquisition of tolerance to a variety of stresses in the filamentous fungus Aspergillus nidulans The GenBank accession number for the sequence reported in this paper is AF043230

46. Molecular and physiological characterization of the NAD-dependent glycerol 3-phosphate dehydrogenase in the filamentous fungus Aspergillus nidulans

47. Properties ofAspergillus nigercitrate synthase and effects ofcitA overexpression on citric acid production

48. Characterization of phosphoglucose isomerase. Use for quantitative determination of erythrose 4-phosphate

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

50. Characterization and overexpression of the Aspergillus niger gene encoding the cAMP-dependent protein kinase catalytic subunit

Catalog

Books, media, physical & digital resources