Jones, Simon A.

Top Publications

Top Publications Authored or Co-Authored by "Jones, Simon A."

• Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

  Genetics in Medicine, Volume 18, No. 5, Year 2016, Citations 72
• Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial

  Molecular Genetics and Metabolism, Volume 114, No. 2, Year 2015, Citations 71
• Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

  Orphanet Journal of Rare Diseases, Volume 12, No. 1, Article 25, Year 2017, Citations 65
• Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

  Orphanet Journal of Rare Diseases, Volume 14, No. 1, Article 137, Year 2019, Citations 54
• Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

  Archives of Disease in Childhood, Volume 102, No. 11, Year 2017, Citations 43