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

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

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

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

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

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

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

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

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

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

36. 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

37. Intracellular pH homeostasis in the filamentous fungusAspergillus niger

38. Aspergillus oryzaein solid-state and submerged fermentations

39. 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

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

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

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

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

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

45. Newborn Screening for Hunter Disease: A Small-Scale Feasibility Study

46. Mucopolysaccharidosis Type IIID: 12 New Patients and 15 Novel Mutations

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

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

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

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

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