Clinical trial NCT04002531 - References

Quality of Life — A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children

Citation(s)

•   Dobyns WB
  The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked. Acta Paediatr Suppl. 2006 Apr;95(451):11-5.
•   Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP
  X-chromosome inactivation in female patients with Fabry disease. Clin Genet. 2016 Jan;89(1):44-54. doi: 10.1111/cge.12613. Epub 2015 Jun 22.
•   Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ
  Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018 Feb 1;13(1):30. doi: 10.1186/s13023-018-0766-x. Review.
•   MacDermot KD, Holmes A, Miners AH
  Natural history of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis. 2001;24 Suppl 2:13-4; discussion 11-2.
•   Meikle PJ, Hopwood JJ, Clague AE, Carey WF
  Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20;281(3):249-54.
•   Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants
  Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.
•   Schiffmann R, Pastores GM, Lien YH, Castaneda V, Chang P, Martin R, Wijatyk A
  Agalsidase alfa in pediatric patients with Fabry disease: a 6.5-year open-label follow-up study. Orphanet J Rare Dis. 2014 Nov 26;9:169. doi: 10.1186/s13023-014-0169-6.
•   Schiffmann R, Ries M
  Fabry Disease: A Disorder of Childhood Onset. Pediatr Neurol. 2016 Nov;64:10-20. doi: 10.1016/j.pediatrneurol.2016.07.001. Epub 2016 Jul 29. Review.
•   Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ
  Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. doi: 10.1093/ndt/gfp031. Epub 2009 Feb 13.
•   Schiffmann R
  Fabry disease. Pharmacol Ther. 2009 Apr;122(1):65-77. doi: 10.1016/j.pharmthera.2009.01.003. Epub 2009 Feb 8. Review.

A One Visit Follow Up of Adults With Fabry Disease Who Started Long-term Enzyme Replacement Therapy As Children

Details for clinical trial NCT04002531