EXPERTS COUNCIL RESOLUTION/ CLINICAL SIGNS, MANAGEMENT AND MONITORING ALGORITHMS OF PATIENTS WITH MPS I WHO HAVE UNDERGONE HEMATOPOIETIC STEM CELL TRANSPLANTATION. THE ROLE OF ERT IN MPS I MANAGEMENT AFTER HSCT

1. Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: The metabolic and molecular bases of inherited disease. Scriver CR, Beaudet AL, Sly WS, et al., eds. New York: McGraw Hill; 2001. pр. 3421–3452.

2. Boffi L, Russo P, Limongelli G. Early diagnosis and management of cardiac manifestations in mucopolysaccharidoses: a practical guide for paediatric and adult cardiologists. Ital J Pediatr. 2018; 44(Suppl 2):122. doi: 10.1186/s13052-018-0560-3

3. Vasichkina ES, Vershinina TL, Kovalchuk TS., et al. Damages of Cardiovascular System at Mucopolysaccharidosis Type I: Clinical Cases. Voprosy sovremennoi pediatrii — Current Pediatrics. 2019;18(5):346–353. (In Russ). doi: 10.15690/vsp.v18i5.2058

4. Mikhaylova SV, Slateckay AN, Pristanskova EA, et al. Mucopolysaccharidosis I type: new management. Pediatric hematology/oncology and immunopathology. 2018;17(4): 35–42. (In Russ). doi: 10.24287/1726-1708-2018-17-4-35-42

5. Bykova TA, Ovechkina VN, Osipova AA, et al. An evaluation of the efficacy of allogeneic hematopoietic stem cell transplantation in patients with mucopolysaccharidosis type I (Hurler syndrome): the experience of the R.M. Gorbacheva Research Institute for Pediatric Oncology, Hematology and Transplantation. Pediatric hematology/oncology and immunopathology. 2020;19(2):83–92. (In Russ). doi: 10.24287/1726-1708-2020-19-2-83-92

6. de Ru MH, Boelens JJ, Das AM, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis. 2011;6:55. doi: 10.1186/1750-1172-6-55

7. Muenzer J, Wraith E, Clarke LA. Mucopolysaccharidosis I: management and treatment guidelines. Pediatrics. 2009;123(1):19–29. doi: 10.1542/peds.2008-0416

8. Giugliani R, Rojas VM, Martins AM, et al. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab. 2009;96(1):13–19. doi: 10.1016/j.ymgme.2008.10.009

9. Sands MS, Davidson BL.. Gene therapy for lysosomal storage diseases. Mol Ther. 2006;13(5):839–849. doi: 10.1016/j.ymthe.2006.01.006

10. Aldenhoven M, Boelens JJ, de Koning TJ. The clinical outcome of Hurler syndrome after stem cell transplantation. Biol Blood Marrow Transplant. 2008;14(5):485–498. doi:10.1016/j.bbmt.2008.01.009

11. Kakkis ED, McEntee MF, Schmidtchen A, et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med. 1996;58(2): 156–167. doi: 10.1006/bmme.1996.0044

12. Aldenhoven M, Wynn RF, Orchard PJ, et al. Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. Blood. 2015;125(13): 2164–2172. doi: 10.1182/blood-2014-11-608075

13. Mukopolisakharidoz tip I: clinical guidelines. Association of Medical Geneticists; Union of Pediatricians of Russia. 2019. (In Russ). Доступно по: http://cr.rosminzdrav.ru/schema/291_1. Ссылка активна на 26.04.2021.