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2. Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis

3. Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

4. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

7. Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trial

13. Contributors

16. Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

17. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

19. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

20. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

25. Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

31. PRRT2 mutations: exploring the phenotypical boundaries

38. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

39. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

40. Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

41. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases

46. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects : Clinical and biochemical responses

47. Research activity and capability in the European reference network MetabERN

48. Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses

49. Research activity and capability in the European reference network MetabERN

50. Clinical implementation of gene panel testing for lysosomal storage diseases

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