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

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

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

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

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

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

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

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

9. Technical Aspects of Coenzyme Q

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

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

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

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

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

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

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

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

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

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

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

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

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

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

24. Mucolipidosis type III, a series of adult patients

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

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

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

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

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

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

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

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

33. Laboratoriumonderzoek van erfelijke metabole ziekten: lysosomale stapelingsziekten

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

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

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

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

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

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

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

41. 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

42. Intracellular pH homeostasis in the filamentous fungusAspergillus niger

43. Aspergillus oryzaein solid-state and submerged fermentations

44. 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

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

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

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

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

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

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

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