Список литературы

Поставить закладку

Baldellou A, Andria G, Campbell PE et al Paediatric nonneuronopathic Gaucher disease: recommendations for treatment and monitoring. Eur J Pediatr 2004–v.163–p.67-75.
Charrow J, Esplin JA, Gribble TJ et al Gaucher disease: recommendations on diagnosis, evaluation, and monitoring. Arch Intern Med 1998–v.158–p.1754-1760.
Grabowski GA, Andria G, Baldellou A et al Pediatric nonneuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements. Eur J Pediatr 2004 – v.163–p.58-66
Vellodi A, Bembi B, de Villemeur TB et al Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis 2001. v.24-p.319-327
Pastores GM, Weinreb NJ, Aerts H, Andria G, Cox TM, Giralt M, Grabowski GA, Mistry PK, Tylki-Szymanska A (2004). Therapeutic goals in the treatment of Gaucher disease. Semin Hematol 41(4 Suppl 5): 4–14.
Stone, D. L., Tayebi, N., Orvisky, E., Stubblefield, B., Madike, V., & Sidransky, E. (2000). Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Human Mutation, 15(2), 181–188. doi:10.1002/(sici)1098-1004(200002)15:2<181::aid-humu7>3.0.co;2-s
Инструкция к лекарственному препарату: http://grls.rosminzdrav.ru/Grls_View_v2.aspx?idReg=10644&t=
Neal J. Weinreb, Jack Goldblatt, Jacobo Villalobos, Joel Charrow, J. Alexander Cole, Marcelo Kerstenetzky, Stephan vom Dahl, Carla Hollak. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherit Metab Dis. 2012 Sep 14.
Robertson PL, Maas M, Goldblatt J (2007) Semiquantitative assessment of skeletal response to enzyme replacement therapy for Gaucher's disease using the bone marrow burden score. AJR Am J Roentgenol 188:1521–1528.
Charrow, J., Dulisse, B., Grabowski, G. and Weinreb, N. (2007), The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clinical Genetics, 71: 205–211. doi: 10.1111/j.1399-0004.2007.00769.x
Sims, K., Pastores, G., Weinreb, N., Barranger, J., Rosenbloom, B., Packman, S., Kaplan, P., Mankin, H., Xavier, R., Angell, J., Fitzpatrick, M. and Rosenthal, D. (2008), Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clinical Genetics, 73: 430–440. doi: 10.1111/j.1399-0004.2008.00978.x
Инструкция к лекарственному препарату: http://grls.rosminzdrav.ru/Grls_View_v2.aspx?idReg=36175&t=
Gonzalez, D. E., Turkia, H. B., Lukina, E. A., Kisinovsky, I., Dridi, M.-F. B., Elstein, D., Zahrieh, D., Crombez, E., Bhirangi, K., Barton, N. W. and Zimran, A. (2013), Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. Am. J. Hematol., 88: 166–171. doi: 10.1002/ajh.23381
Pastores GM, Rosenbloom B, Weinreb N, et al. A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genetics in Medicine. 2014;16(5):359-366. doi:10.1038/gim.2013.154.
Giraldo P, et al. Safety and efficacy of velaglucerase alfa in children with type 1 Gaucher disease: 2-year experience. Poster presented at the American College of Medical Genetics (ACMG) Annual Clinical Genetics Meeting. Charlotte, North Carolina, USA. 2012, March 27–31.
Инструкция к лекарственному препарату : http://grls.rosminzdrav.ru/Grls_View_v2.aspx?routingGuid=40906850-0018-4a7e-b9e1- 21ab4ff89194&t=
Zimran A, et al;. Taliglucerase alfa: safety and efficacy across 6 clinical studies in adultsand children with Gaucher disease. Orphanet Journal of Rare Diseases 2018 Feb23;13(1):36
Ari Zimran, Nadia Belmatoug, Bruno Bembi et al. Demographics and patient characteristics of 1209 patients with GD. Am J Hematol. 2018; 93:205–212.
Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun et al. Diagnosis features of pediatric Gaucher. Orphanet Journal of Rare Diseases, 2017.
Jérôme Stirnemann, Nadia Belmatoug, Fabrice Camou et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int. J. Mol. Sci. 2017, 18, 441
Atul Mehtaa, Nadia Belmatougb, Bruno Bembic et al. Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher. Molecular Genetics and Metabolism, 2017; 122: 122–129.
Shoshana Revel-Vilk, Jeff Szer, Atul Mehta and Ari Zimran. How we manage Gaucher Disease in the era of choices. British Journal of Haematology, 2018; 182: 467–480.
Краснопольская К.Д. Наследственные болезни обмена веществ. Справочное пособие для врачей. М.: Фохат; 2005;364 с.
Atul Mehta, David J. Kuter, Sam S. Salek et al. Presenting signs and patient co-variables in Gaucher disease outcome of the Gaucher Earlier Diagnosis Consensus (GED-C), Internal Medicine Journal 49, 2019, 578–591.
Carubbi F., Cappellini M.D., Fargion S. Fracanzani A.L., Nascimbeni F. Liver involvement in Gaucher disease: Apractical review for the hepatologist and the gastroenterologist. Digestive and Liver Disease. 52, 2020, 368–373.
Nalysnyk L., Rotella P., Simeone J. et al. Gaucher disease epidemiology and naturalhistory: a comprehensivereview of the literature.Hematology. 2017; 22(2): 65-73.
Grabowski G., Zimran A., Ida H. Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015; 90(1): 12-18.
Kaplan P., Andersson H., Kacena K.,Yee J. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch. Pediatr.Adolesc. Med. 2006; 160(6): 603-608.
Bultron G., Kacena K.,Pearson D.et al. The risk of Parkinson’s disease in type 1 Gaucher disease. J Inherit Metab Dis. 2010; 33(2): 167-173.
Pastores G., Barnett N., Bathan P.,Kolodny E. A neurological symptom survey of patients with type I Gaucher disease. J Inherit Metab Dis. 2003; 26(7): 641-645.
Rosenbloom B., Weinreb N. Gaucher Disease: A Comprehensive Review. Crit Rev Oncog. 2013; 18(3): 163-175.
Weinthal J.A. Prognosis of patients with Gaucher disease. Clinical Advances in Hematology and Oncology. 2012;10(6):10-11.
Huang W.,ZhangX.,Chen W. Gaucher disease: a lysosomal neurodegenerative disorder. Eur. Rev. Wed. Pharmocol. Sci. 2015; 19(7): 1219-1226.
Tylki-Szymanska A., Vellodi A., El-Beshlawy A., Cole J., Kolodny E. Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in theInternational Collaborative Gaucher Group Neurological Outcomes Subregistry.J. Inherit. Metab.Dis. 2010; 33(4): 339-346.
Мовсисян Г.Б. Оптимизация оказания медицинской помощи детям с болезнью Гоше в Российской Федерации. Автореф. канд. мед. наук. М., 2018.
Mekinian A., Stirnemann J.,Belmatoug N.et al. Ferritinemia during type 1 Gaucherdisease: Mechanisms and progression under treatment. Blood Cells, Molecules, and Diseases. 2012;49(1): 53- 57
Evaluation of high density lipoprotein as a circulatingbiomarker of Gaucher diseaseactivity. J Inherit Metab Dis. 2011; 34(2): 429-43
Wine E.,Yaniv I.,Cohen I. Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effectsof enzyme replacement therapy. J Pediatr Hematol Oncol. 2007; 29(7):451-457.
Сметанина Н.С. Гематологические проявления болезни Гоше. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016;15(2):53-58.
Deghady A., Marzouk I., El-Shayeb A., Wali Y. Coagulation abnormalities in type 1 Gaucher disease in children. Pediatr Hematol Oncol. 2006; 23(5): 411-417.
Rolfs A., Giese A., Grittner U.et al. Glucosylsphingosine is a highly sensitive andspecific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One. 2013; 8(11): e79732.
Aerts J.M., van Breemen M., Bussink A.et al. Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. ActaPaediatr. 2008; 97: 7-14.
Hollak C., van Weely S.,van Oers M., Aerts J. Marked elevation of plasms chitotriosidase activity. A novel hallmark of Gaucher disease. J. Clin. Invest. 1994; 93(3): 1288-1292.
Boot R., Verhoek M.,de Fost M.et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood. 2004; 103(1):33-39.
Букина Т.М. Биохимическая и молекулярно-генетическая характеристика болезни Гоше у российских пациентов: дис. канд. биол. наук: 3.00.15. М.;2005; 114 с.
Bodamer O. Hung C. Laboratory and genetic evaluation of Gaucher disease. Wiener Medizinische Wochenschrift. 2010; 160(23-24): 600-604.
Stroppiano M., Calevo M., Corsolini F. et al. Validity of β-D-glucosidase activity measured in dried blood samples for detection of potential Gaucher disease patients. Clin Biochem.2014; 47(13- 14): 1293-1296.
Sibille A.,Eng C.,Kim S.et al. Phenotype/genotype correlations in Gaucherdisease type 1: clinicaland therapeutic implications.Am. J. Hum. Genet. 1993; 52(6): 1094-1101.
Sidransky E.,Bottler A.,Stubblefield B.,Ginns E. DNA mutational analysis of type1 and type 3 gaucher patients: How well do mutations predict phenotype? Hum Mutat. 1994; 3(1):25-28.
Лукина Е.А. Болезнь Гоше: современная диагностика и лечение. Клиническая онкогематология. 2009;2(2):196-199.51. Белогурова М.Б. Патогенез, клиническая картина, диагностика и лечение болезни Гоше. Педиатрия и детская хирургия. 2010; №3:43-48.
Kaplan P., Baris H, De Meirleir L, Di Rocco M, El-Beshlawy A, Huemer M, Martins AM, Nascu I, Rohrbach M, Steinbach L, Cohen IJ. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr. 2013 Apr;172(4):447-458.
Grabowski G. Gaucher disease and other storage disorders. Hematology Am. Soc.Hematol. Educ. Program. 2012; 8(1): 13-18.
vomDahl S.,Mengel E. Lysosomal storage diseases as differential diagnosis ofhepatosplenomegaly. Best Practice & Research Clinical Gastroenterology. 2010; 24(5): 619-628.
Marcucci G., Zimran A., Bembi B.et al. Gaucher disease and bone manifestations. Calcif Tissue Int. 2014; 95(6): 477-494.
Hadas-Halpern I., Deeb M.,Abrahamov A.et al. Gaucher disease: spectrum of sonographic findings in the liver. J Ultrasound Med. 2010; 29(5): 727-733
Скрипникова И.А., Щеплягина Л.А., Новиков В.Е.и др. Возможности костной рентгеновской денситометрии в клинической практике. М.: ФГБУ «ГНИЦПМ»; 2015; 36 с.
Giuffrida G., Cappellini M., Carubbi F.et al. Management of bone disease in Gaucher diseasetype 1: clinical practice. Adv Ther. 2014; 31(12): 1197-1212.
Мазырко Е.В., Ростовцев М.В., Коробкин А.В. Болезнь Гоше. Опыт рентгенодиагностики поражения скелета. Медицинская визуализация. 2010; No2: 48-53.
Faden M.,Krakow D.,Ezgu F.et al. The Erlenmeyer flask bone deformity in the skeletal dysplasias.American Journal of Medical Genetics Part A. 2009; 149A(6): 1334-1345.
Maas M., Hangartner T.,Mariani G.et al. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease. Sceletal Radiol. 2008;37(3): 185-188.
Bohte A., van Dussen L., Akkerman E.et al. Liver fibrosis in type I Gaucher disease: magnetic resonance imaging, transient elastography and parameters ofiron storage. PLoS One.2013; 8(3): e57507.
de Lédinghen V., Le Bail B., Rebouissoux L.et al. Liver Stiffness Measurement in Children Using FibroScan: Feasibility Study and Comparison With Fibrotest, Aspartate Transaminase to Platelets Ratio Index, and Liver Biopsy.J Pediatr Gastroenterol Nutr. 2007; 45(4):443-450.
Vom Dahl S., Poll L., Di Rocco M. Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients.Curr Med ResOpin. 2006; 22(6): 1045-1064.
Goker-Alpan O. Optimal therapy in Gaucher disease. Ther. Clin. Risk Manag. 2010;6: 315-323.
Starzyk K., Richards S., Yee J.et al. The long-term international safety experience of imiglucerase therapy for Gaucher disease. Mol Genet Metab. 2007; 90(2): 157-163.
Goker-Alpan O. Therapeutic approaches to bone pathology in Gaucher disease: past,present and future.Mol Genet Metab. 2011; 104: 438-447.