1. Neufeld E, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B, eds. The Metabolic and Molecular Basis of Inherited Disease. 8 ed. New York. NY: McGraw-Hill; 2001: 3421 - 52.
2. Giugliani R, Federhen A, Rojas MV, et al. Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment. Genet Mol Biol. 2010; 33(4): 589 - 604.
3. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA. 1999; 281: 249 - 54.
4. Khan, S.A., Peracha, H., Ballhausen, D., Wiesbauer, A., Rohrbach, M., Gautschi, M., Mason, R.W., Giugliani, R., Suzuki, Y., Orii, K.E., Orii, T., Tomatsu, S. Epidemiology of mucopolysaccharidoses. Molec. Genet. Metab. 2017; 121: 227 - 240,
5. Costa-Motta FM, Bender F, Acosta A,
K, Machado T, Bomfim T, Boa Sorte T, da Silva D, Bittles A, Giugliani R, Leistner-Segal S. A community-based study of mucopolysaccharidosis type VI in Brazil: the influence of founder effect, endogamy and consanguinity. Hum Hered. 2014; 77(1-4): 189 - 196
6. Valayannopoulos V, Nicely H, Harmatz P, Turbeville S. Mucopolysaccharidosis VI. Orphanet J Rare Dis. 2010; 5: 5. Published 2010 Apr 12. doi: 10.1186/1750-1172-5-5
7. Giugliani R., Lampe C., Guffon N., et al (2014). Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey study. American Journal of Medical Genetics, Part A, 164(8), 1953 - 1964.
8. Horovitz D.D.G.,
T. de S.P.C., Costa A.P., et al (2011). Spinal cord compression in young children with type VI mucopolysaccharidosis. Molecular Genetics and Metabolism, 104(3), 295 - 300.
9. White K.K., Harmatz P. (2010). Orthopedic management of mucopolysaccharide disease. Journal of Pediatric Rehabilitation Medicine, 3(1), 47 - 56.
10. Williams N., Challoumas D., and Eastwood D.M. Does orthopaedic surgery improve quality of life and function in patients with mucopolysaccharidoses? Journal of Children's Orthopaedics 2017 11: 4, 289 - 297
11. Моисеев С.В., Новиков П.И., Мешков А.Д., Фомин В.В. (2017). Мукополисахаридоз VI типа у взрослых. Клиническая фармакология и терапия, 26(1), 1 - 7.
12. Golda A., Jurecka A., Tylki-Szymanska A. (2012). Cardiovascular manifestations of mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). International Journal of Cardiology, 158(1), 6 - 11.
13. Lachman R.S., Burton B.K., Clarke L.A., et al (2014). Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): Under-recognized and challenging to diagnose. Skeletal Radiology, 43(3), 359 - 369.
14. Wood T., Bodamer O.A., Burin M.G., et al. Expert recommendations for the laboratory diagnosis of MPS VI. Molecular Genetics and Metabolism, 2012: 106(1), 73 - 82.
15. Human Gene Mutations Database. Qiagen HGMD Professional
16. Giugliani, Paul Harmatz, James E. Wraith. Management Guidelines for Mucopolysaccharidosis VI. Pediatrics. 2007; 120 (2): 405 - 418.
17. Giugliani R., Herber S., Pinto L.L.D.C., Baldo G. (2014). Therapy for Mucopolysaccharidosis VI: (Maroteaux-Lamy Syndrome) Present Status and Prospects. Pediatric Endocrinology Reviews: Diabetes Nutrition Metabolism Genetics, v. 12, suppl. 1, 152 - 158.
18. Brunelli MJ, Atallah
, da Silva EMK. Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI. Cochrane Database of Systematic Reviews 2016, Issue 3. Art. No.: CD009806.
19. Harmatz P, Whitley CB, Waber L, et al Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr. 2008; 144(5): 574 - 580.
20. Harmatz P., Giugliani R., Ida I.V., Guffon N., et all (2008). Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Molecular Genetics and Metabolism, 94(4), 469 - 475.
21. Swiedler S.J., Beck M., Bajbouj M., et al (2005). Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). American Journal of Medical Genetics, 134 A(2), 144 - 150.
22. Brands M.M.G.,
D., van den Hout J.M.P., et al (2015). Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey Journal of Inherited Metabolic Disease, 38(2), 323 - 331.
23. Kampmann C., Lampe C.,
C., Wiethoff C. M., Mengel E., Arash L., Beck M., Miebach E. (2014). Mucopolysaccharidosis VI: Cardiac involvement and the impact of enzyme replacement therapy. Journal of Inherited Metabolic Disease, 37(2), 269 - 276.
24. Lampe C
W Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery. J Inherit Metab Dis. 2013 Nov; 36(6): 1005 - 13.
25. Lampe C., Lampe C., Schwarz M.,
W., Harmatz P., Mengel E. (2013). Craniocervical decompression in patients with mucopolysaccharidosis VI: Development of a scoring system to determine indication and outcome of surgery. Journal of Inherited Metabolic Disease, 36(6), 1005 - 1013.
26. Leal G.N., De Paula A.C., Leone C., Kim C.A. (2010). Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiology in the Young, 20(3), 254 - 261.
27. Moreira G.A., Kyosen S.O., Patti C.L., Martins A.M., Tufik S. (2014). Prevalence of obstructive sleep apnea in patients with mucopolysaccharidosis types I, II, and VI in a reference center. Sleep and Breathing, 18(4), 791 - 797.
28. Valayannopoulos V, Wijburg FA. Therapy for the mucopolysaccharidoses. Rheumatology (Oxford) 2011; 50(5): 49 - 59.
29. Миронов С.П., Колесов С.В., Переверзев В.С., Колбовский Д.А., Кулешов А.А., Ветрилэ М.С., Казьмин А.И. Опыт хирургического лечения краниовертебрального стеноза у пациентов с мукополисахаридозом I, II, VI типов. "Хирургия позвоночника". 2018; 15(4): 32 - 40.
30. ATS statement: Guidelines for the Six-Minute Walk Test. American Journal of Respiratory and Critical Care Medicine. Vol. 166, No. 1. Jul 01, 2002
31. Demoly P, Adkinson NF, Brockow K, Castells M, Chiriac AM, Greenberger PA, Khan DA, Lang DM, Park HS, Pichler W, Sanchez-Borges M, Shiohara T, Thong BY. International Consensus on drug allergy Allergy. 2014 Apr; 69(4): 420 - 37 Demoly P, Adkinson NF, Brockow K, Castells M, Chiriac AM, Greenberger PA, Khan DA, Lang DM, Park HS, Pichler W, Sanchez-Borges M, Shiohara T, Thong BY. International Consensus on drug allergy. Allergy. 2014 Apr; 69(4): 420 - 37.
32. Simons FE, Ebisawa M, Sanchez-Borges M, Thong BY, Worm M, Tanno LK, Lockey RF, El-Gamal YM, Brown SG, Park HS, Sheikh A. 2015 update of the evidence base: World Allergy Organization anaphylaxis guidelines. World Allergy Organ J. 2015 Oct 28; 8(1): 32.]
33. Ильина Н.И., и соавт. Анафилактический шок (2-й пересмотр). Клинические рекомендации Российской ассоциации аллергологов и клинических иммунологов и Общероссийской общественной организации "Федерация анестезиологов и реаниматологов"//Вестник интенсивной терапии имени А.И. Салтанова. 2024.
34. Bitencourt FH, Vieira TA, Steiner CE, Neto JC, Boy R, Schwartz IVD. Medical Costs Related to Enzyme Replacement Therapy for Mucopolysaccharidosis Types I, II, and VI in Brazil: A Multicenter Study. Value Health Reg Issues. 2015 Dec; 8: 99 - 106
35. Вашакмадзе Н.Д. Мультидисциплинарные принципы ведения детей с мукополисахаридозами в повышении эффективности их диагностики и лечения: автореферат диссертации доктора медицинских наук: 14.01.08, Екатеринбург, 2019. - 47 с.
36. Hendriksz CJ, Giugliani R, Harmatz P, Lampe C, Martins AM, Pastores GM, Steiner RD,
Teles E, Valayannopoulos V; CSP Study Group. Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis. 2013 Mar; 36(2): 373 - 84
37. Keilmann A, Bendel F, Nospes S, Lampe C,
AK. Alterations of mucosa of the larynx and hypopharynx in patients with mucopolysaccharidoses. J Laryngol Otol. 2016 Feb; 130(2): 194 - 200
38. Berger KI, Fagondes SC, Giugliani R, Hardy KA, Lee KS, McArdle C, Scarpa M, Tobin MJ, Ward SA, Rapoport DM. Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013 Mar; 36(2): 201 - 10
39. Scarpa M,
CM, Amartino H. Epilepsy in mucopolysaccharidosis disorders. Mol Genet Metab. 2017 Dec; 122S: 55 - 61
40. Harmatz PR, Lampe C, Parini R, Sharma R, Teles EL, Johnson J, Sivam D, Sisic Z. Enzyme replacement therapy outcomes across the disease spectrum: Findings from the mucopolysaccharidosis VI Clinical Surveillance Program. J Inherit Metab Dis. 2019 May; 42(3): 519 - 526
41. Akyol MU, Alden TD, Amartino H, Ashworth J, Belani K, Berger KI, Borgo A, Braunlin E, Eto Y, Gold JI, Jester A, Jones SA, Karsli C, Mackenzie W, Marinho DR, McFadyen A, McGill J, Mitchell JJ, Muenzer J, Okuyama T, Orchard PJ, Stevens B, Thomas S, Walker R, Wynn R, Giugliani R, Harmatz P, Hendriksz C, Scarpa M; MPS Consensus Programme Steering Committee; MPS Consensus Programme Co-Chairs. Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance. Orphanet J Rare Dis. 2019 May 29; 14(1): 118
42. Lin HY, Shih SC, Chuang CK, Chen MR, Niu DM, Lin SP. Assessment of bone mineral density by dual energy x-ray absorptiometry in patients with mucopolysaccharidoses. Orphanet J Rare Dis. 2013 May 11; 8: 71
43. Jiang Z, Byers S, Casal ML, Smith LJ. Failures of Endochondral Ossification in the Mucopolysaccharidoses. Curr Osteoporos Rep. 2020 Dec; 18(6): 759 - 773
44. Escolar ML, Jones SA, Shapiro EG, Horovitz DDG, Lampe C, Amartino H. Practical management of behavioral problems in mucopolysaccharidoses disorders. Mol Genet Metab. 2017 Dec; 122S: 35 - 40
45. https://rarediseases.org/rare-diseases/maroteaux-lamy-syndrome/
46. Congedi S, Orzalesi M, Di Pede C, Benini F. Pain in Mucopolysaccharidoses: Analysis of the Problem and Possible Treatments. Int J Mol Sci. 2018 Oct 8; 19(10): 3063
47. Neto
, Holanda GB, Farias MC, Santos da Costa G, Pereira HS. Hydrocephalus in mucopolysaccharidosis type VI successfully treated with endoscopic third ventriculostomy. J Neurosurg Pediatr. 2013 Mar; 11(3): 327 - 30
48. Alden TD, Amartino H, Dalla Corte A, Lampe C, Harmatz PR, Vedolin L. Surgical management of neurological manifestations of mucopolysaccharidosis disorders. Mol Genet Metab. 2017 Dec; 122S: 41 - 48
49. Venekamp RP, Hearne BJ, Chandrasekharan D, Blackshaw H, Lim J, Schilder AG. Tonsillectomy or adenotonsillectomy versus non-surgical management for obstructive sleep-disordered breathing in children. Cochrane Database Syst Rev. 2015 Oct 14; (10): CD011165
50. Bianchi PM, Gaini R, Vitale S. ENT and mucopolysaccharidoses. Ital J Pediatr. 2018 Nov 16; 44 (Suppl 2): 127
51. Yang L, Shan Y, Wang S, Cai C, Zhang H. Endoscopic assisted adenoidectomy versus conventional curettage adenoidectomy: a meta-analysis of randomized controlled trials. Springerplus. 2016 Apr 11; 5: 426,
52. Harrison R, Schaefer S, Warner L, Mercer J, Jones S, Bruce I. Transnasal adenoidectomy in mucopolysaccharidosis. Int J Pediatr Otorhinolaryngol. 2018 Aug; 111: 149 - 152
53. Mitchell RB, Archer SM, Ishman SL, Rosenfeld RM, Coles S, Finestone SA, Friedman NR, Giordano T, Hildrew DM, Kim TW, Lloyd RM, Parikh SR, Shulman ST, Walner DL, Walsh SA, Nnacheta LC. Clinical Practice Guideline: Tonsillectomy in Children (Update). Otolaryngol Head Neck Surg. 2019 Feb; 160 (1_suppl): S1 - S42
54. Motamed M, Thorne S, Narula A. Treatment of otitis media with effusion in children with mucopolysaccharidoses. Int J Pediatr Otorhinolaryngol. 2000 Jun 30; 53(2): 121 - 4
55. Jeffrey D. Kingsley et al. Immunizations for Patients With Metabolic Disorders. Pediatrics (2006) 118 (2): e460 - e470. https://doi.org/10.1542/peds.2005-1257
56. Fr. Menni, G. Chiarelli, C. Sabatini, N. Principi, S. Esposito. Vaccination in children with inborn errors of metabolism. Vaccine. 2012; 30 (50): 7161 - 7164
57. N.P. Klein et al. Evaluation of Immunization Rates and Safety Among Children With Inborn Errors of Metabolism. Pediatrics (2011) 127 (5): e1139 - e1146. https://doi.org/10.1542/peds.2010-3706
58. Приказ Минздрава России от 06.12.2021 N 1122н "Об утверждении национального календаря профилактических прививок, календаря профилактических прививок по эпидемическим показаниям и порядка проведения профилактических прививок"
59. Методические указания МУ 3.3.1.1095-02. Медицинские противопоказания к проведению профилактических прививок препаратами национального календаря прививок
60. Федосеенко М.В., Намазова-Баранова Л.С., Вишнева Е.А., Толстова С.В., Сельвян А.М., Калюжная Т.А., Шахтахтинская Ф.Ч., Солошенко М.А., Привалова Т.Е., Фоминых М.В., Зиновьева Т.Е. Совершенствование подходов к иммунопрофилактике детей с отклонениями в состоянии здоровья: результаты проспективного когортного исследования. Педиатрическая фармакология. 2021; 18(6): 470 - 483. doi: 10.15690/pf.v18i6.2328
61. Ramos BCF, Aranda CS, Cardona RSB, Martins AM,
D, Clemens SAC, Clemens R. Vaccination strategies for people living with inborn errors of metabolism in Brazil. J Pediatr (Rio J). 2023 Mar - Apr; 99 Suppl 1 (Suppl 1): S70 - S80. doi: 10.1016/j.jped.2022.12.001
62. Baumer T, Buhring N, Schelle T, Munchau A, Muschol N. Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis. Dev Med Child Neurol. 2016 doi: 10.1111/dmcn.13127
63. Jester AAM. Ultrasonography for diagnosis and follow-up of carpal tunnel syndrome in mucopolysaccharidosis. Dev Med Child Neurol. 2016 doi: 10.1111/dmcn.13148
64. Patel P, Antoniou G, Clark D, Ketteridge D, Williams N. Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis. J Child Neurol. 2020 May; 35(6): 410 - 417. doi: 10.1177/0883073820904481. Epub 2020 Mar 11. PMID: 32157938; PMCID: PMC7153223
65. Gnasso R, Corrado B, Iommazzo I, Migliore F, Magliulo G, Giardulli B, Ruosi C. Assessment, pharmacological therapy and rehabilitation management of musculoskeletal pain in children with mucopolysaccharidoses: a scoping review. Orphanet J Rare Dis. 2022 Jul 8; 17(1): 255. doi: 10.1186/s13023-022-02402-w. PMID: 35804400; PMCID: PMC9264657
66. Harshanand P, Anil Kumar G, Vivek P, Jayasree R Mucopolysaccharidosis and Rehabilitation October 2013 Indian Journal of Physical Medicine and Rehabilitation 24 (20 (june 2013): 44
67. Poswar FO, Santos HS, Santos ABS, Berger SV, de Souza CFM, Giugliani R, Baldo G. Progression of Cardiovascular Manifestations in Adults and Children With Mucopolysaccharidoses With and Without Enzyme Replacement Therapy. Front Cardiovasc Med. 2022 Jan 12; 8: 801147. doi: 10.3389/fcvm.2021.801147. PMID: 35097020; PMCID: PMC8790121
- Гражданский кодекс (ГК РФ)
- Жилищный кодекс (ЖК РФ)
- Налоговый кодекс (НК РФ)
- Трудовой кодекс (ТК РФ)
- Уголовный кодекс (УК РФ)
- Бюджетный кодекс (БК РФ)
- Арбитражный процессуальный кодекс
- Конституция РФ
- Земельный кодекс (ЗК РФ)
- Лесной кодекс (ЛК РФ)
- Семейный кодекс (СК РФ)
- Уголовно-исполнительный кодекс
- Уголовно-процессуальный кодекс
- Производственный календарь на 2025 год
- МРОТ 2025
- ФЗ «О банкротстве»
- О защите прав потребителей (ЗОЗПП)
- Об исполнительном производстве
- О персональных данных
- О налогах на имущество физических лиц
- О средствах массовой информации
- Производственный календарь на 2026 год
- Федеральный закон "О полиции" N 3-ФЗ
- Расходы организации ПБУ 10/99
- Минимальный размер оплаты труда (МРОТ)
- Календарь бухгалтера на 2025 год
- Частичная мобилизация: обзор новостей
- Постановление Правительства РФ N 1875