Clinical Practice Guidelines for delivery of healthcare to patients with Pompe disease

1. ATS Committee on Proficiency Standards for Clinical Pulmonary Function Laboratories. ATS Statement: Guidelines for the Six-Minute Walk Test. Am J Respir Crit Care Med 2002;166(2):111–7.

2. Byrne B.J., Kishnani P.S., Case L.E. et al. Pompe disease: design, methodology, and early findings from the Pompe Registry. Mol Genet and Metab 2011;103(1):1–11.

3. Bembi B., Cerini E., Danesino C. et al. Management and treatment of glycogenosis type II. Neurology 2008;71(Suppl 2):12–36.

4. Byrne B.J., Kishnani P.S., Case L.E. et al. Pompe disease: Design, methodology, and early findings from the Pompe Registry. Mol Genet Metab 2011;103(1):1–11.

5. Barba-Romero M.A., Barrot E., Bautista-Lorite J. et al. Сlinical guidelines for late-onset Pompe disease. Rev Neurol 2012;54(8):4970–507.

6. Chien Y.H., Lee N.C., Thurberg B.L. et al. Pompe disease in infants: Improving the prognosis by newborn screening and early treatment. Pediatrics 2009;124(6):e1116–25.

7. Cupler E.J., Berger K.I., Leshner R.T. et al. Consensus treatment recommendations for late-onset Pompe disease. Muscle Nerve 2012;45(3):319–33.

8. Desnuelle C. Поздняя форма болезни Помпе: диагностические и терапевтические подходы. Нервно-мышечные болезни 2012;(3):20–33.

9. de Vries J.M., van der Beek N.A., Hop W.C. et al. Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: an open-label single-center study. Orphanet J Rare Dis 2012;7:73.

10. Deegan P.B., Cox T.M., Waldek S. et al. Guidelines for the Investigation and Management of Late Onset Acid Maltase Deficiency (Type II Glycogen Storage Disease/Pompe Disease). Available at: http://www.specialisedservices.nhs.uk/ library/23/Guidelines_for_Late_Onset_ Pompe_Disease.pdf.

11. Gungor D., Krujushaar M.E., Plug I. et al. Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. Orphanet J Rare Dis 2013;8(1):49.

12. Hagemans M.L., Winkel L.P., Hop W.C. et al. Disease severity in children and adults with Pompe disease related to age and disease duration. Neurology 2005;64(12):2139–41.

13. Hirschorn R., Reuser A.J. Glycogen Storage Disease type II: Acid α-glucosidase (acid maltase) deficiency. By eds.: C.R. Sriver, A.L. Beaudet, W.S. Sly, D. Valle. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed. Pp. 3389–420.

14. Kishnani P.S., Corzo D., Leslie N.D. et al. Early treatment with alglucosidase alfa prolongs long-term survival of infants with Pompe disease. Pediatr Res 2009;66(3):329–35.

15. Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8(5):267–88.

16. Llerena J.C., Horovitz D.M., Marie S.K. et al. The Brazilian consensus on the management of Pompe disease. J Pediatr 2009;155(4):47–56.

17. Pompe Disease Diagnostic Working Group, Winchester B., Bali D. et al. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting. Mol Genet Metab 2008;93(3): 275–81.

18. Muller-Felber W., Horvath R., Gempel K. et al. Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. Neuromuscul Disord 2007;17:698–706.

19. Nicolino M., Byrne B., Wraith J.E. et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009;11(3):210–9.

20. Winkel L.P., Hagemans M.L., van Doorn P.A. et al. The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 2005;252(8): 875–84.

21. Басаргина Е.Н., Жарова О.П., Архипова Е.Н. и др. Опыт применения ферментозаместительной терапии рекомбинантной человеческой кислой альфа-глюкозидазой у детей с инфантильной формой болезни Помпе. Российский вестник перинатологии и педиатрии 2013;(6):58–66.

22. Басаргина Е.Н., Архипова Е.Н., Ермоленко В.С. Болезнь Помпе – новый взгляд на проблему. Фарматека 2014;(1):29–32.

23. Котлукова Н.П., Михайлова С.В., Букина Т.М. и др. Младенческая форма болезни Помпе: клиника, диагностика и лечение. Нервно-мышечные болезни 2012;(4):66–74.

24. Никитин С.С., Ковальчук М.О., Захарова Е.Ю. и др. Болезнь Помпе с поздним началом: первое клиническое описание в России. Нервно-мышечные болезни 2014;(1):62–8.