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1Academic Journal
Συγγραφείς: V.V. Povoroznyuk, N.V. Dedukh, M.A. Bystrytska, A.S. Musiienko
Πηγή: Bolʹ, Sustavy, Pozvonočnik, Vol 9, Iss 2, Pp 135-142 (2019)
PAIN. JOINTS. SPINE; Том 9, № 2 (2019); 135-142
Боль. Суставы. Позвоночник-Bolʹ, sustavy, pozvonočnik; Том 9, № 2 (2019); 135-142
Біль. Суглоби. Хребет-Bolʹ, sustavy, pozvonočnik; Том 9, № 2 (2019); 135-142Θεματικοί όροι: 0301 basic medicine, Medicine (General), 0303 health sciences, treatment, diagnosis, остеопетроз, классификация, патоморфология, остеокласты, генные нарушения, диагностика, лечение, osteopetrosis, classification, pathomorphology, osteoclasts, gene disorders, 3. Good health, 03 medical and health sciences, R5-920, класифікація, патоморфологія, остеобласти, генні порушення, діагностика, лікування
Περιγραφή αρχείου: application/pdf
Σύνδεσμος πρόσβασης: https://doaj.org/article/09db7d3f426d49c4bff0395fe4aa4ec7
http://pjs.zaslavsky.com.ua/article/download/172125/172962
http://pjs.zaslavsky.com.ua/article/view/172125
https://cyberleninka.ru/article/n/osteopetrosis-classification-pathomorphology-genetic-disorders-clinical-manifestations-literature-review-and-clinical-case-report
http://pjs.zaslavsky.com.ua/article/view/172125 -
2Academic Journal
Συγγραφείς: O. G. Radaikina, A. A. Usanova, I. Kh. Fazlova, N. N. Guranova, E. V. Radaikina, О. Г. Радайкина, А. А. Усанова, И. Х. Фазлова, Н. Н. Гуранова, Е. В. Радайкина
Πηγή: Modern Rheumatology Journal; Том 17, № 3 (2023); 60-65 ; Современная ревматология; Том 17, № 3 (2023); 60-65 ; 2310-158X ; 1996-7012
Θεματικοί όροι: трансплантация гемопоэтических стволовых клеток, osteoclasts, autosomal dominant osteopetrosis, autosomal recessive osteopetrosis, transplantation of hematopoietic stem cells, остеокласты, аутосомно-доминантный остеопетроз, аутосомно-рецессивный остеопетроз
Περιγραφή αρχείου: application/pdf
Relation: https://mrj.ima-press.net/mrj/article/view/1432/1362; Bollerslev J, Andersen PE Jr. Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis. Bone. 1988;9(1):7-13. doi:10.1016/8756-3282(88)90021-x.; Loria-Cortes R, Quesada-Calvo E, Cordero-Chaverri C. Osteopetrosis in children: a report of 26 cases. J Pediatr. 1977 Jul;91(1): 43-7. doi:10.1016/s0022-3476(77)80441-1.; Старк З, Саварирайан Р. Остеопетроз. Нефрология. 2010;14(2):20-34.; Кириллов АГ. Аутосомно-рецессивный ОПТ Чувашии. Автореф. дис. канд. мед. наук. Москва; 2005.; Кириллов АГ. Аутосомно-рецессивный ОПТ: ранняя диагностика. Российский педиатрический журнал. 2006;(4):47-51.; Калягин АН, Белозерцева ЛВ, Щаднева СИ и др. Остеопетроз («мраморная» болезнь). Современная ревматология. 2014; 8(1):23-6. doi:10.14412/1996-7012-2014-1-23-26; Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi:10.1186/1750-1172-4-5.; Penna S, Villa A, Capo V. Autosomal recessive osteopetrosis: mechanisms and treatments. Dis Model Mech. 2021 May 1;14(5): dmm048940. doi:10.1242/dmm.048940. Epub 2021 May 10.; Penna S, Capo V, Palagano E, et al. One disease, many genes: implications for the treatment of osteopetroses. Front Endocrinol (Lausanne). 2019 Feb 19;10:85. doi:10.3389/fendo.2019.00085. eCollection 2019.; Jacome-Galarza CE, Percin GI, Muller JT, et al. Developmental origin, functional maintenance and genetic rescue of osteoclasts. Nature. 2019 Apr;568(7753):541-5. doi:10.1038/s41586-019-1105-7. Epub 2019 Apr 10.; Sobacchi C, Schulz A, Coxon FP, et al. Osteopetrosis: genetics, treatment and new insights into osteoclast function. Nat Rev Endocrinol. 2013 Sep;9(9):522-36. doi:10.1038/nrendo.2013.137. Epub 2013 Jul 23.; Palagano E, Menale C, Sobacchi C, et al. Genetics of osteopetrosis. Curr Osteoporos Rep. 2018 Feb;16(1):13-25. doi:10.1007/s11914-018-0415-2.; Howaldt A, Nampoothiri S, Quell LM, et al. Sclerosing bone dysplasias with hallmarks of dysosteosclerosis in four patients carrying mutations in SLC29A3 and TCIRG1. Bone. 2019 Mar;120:495-503. doi:10.1016/j.bone.2018.12.002. Epub 2018 Dec 8.; Howaldt A, Hennig AF, Rolvien T, et al. Adult osteosclerotic metaphyseal dysplasia with progressive osteonecrosis of the jaws and abnormal bone resorption pattern due to a LRRK1 splice site mutation. J Bone Miner Res. 2020 Jul;35(7):1322-32. doi:10.1002/jbmr.3995. Epub 2020 Mar 19.; Kelly A, Younus A, Lekgwara P. Neurosurgical considerations in osteopetrosis. Interdisciplinary Neurosurgery. 2020;20. doi:10.1016/j.inat.2020.100679.; Arruda M, Coelho MCA., Moraes AB, et al. Bone mineral density and microarchitecture in patients with autosomal dominant osteopetrosis: A report of two cases. J Bone Miner Res. 2016 Mar;31(3):657-62. doi:10.1002/jbmr.2715. Epub 2015 Oct 20.; Wu CC, Econs MJ, DiMeglio LA, et al. Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-23. doi:10.1210/jc.2017-01127.; Di Zanni E, Palagano E, Lagostena E, et al. Pathobiologic mechanisms of neurodegeneration in osteopetrosis derived from structural and functional analysis of 14 ClC-7 mutants. J Bone Miner Res. 2021 Mar;36(3): 531-45. doi:10.1002/jbmr.4200. Epub 2020 Nov 29.; Loke JY, Haslina MA, Kamalden TA. Osteopetrosis craniopathy: a rare cause of bilateral compressive optic neuropathy and facial nerve palsy. Postgrad Med J. 2019 Sep; 95(1127):513. doi:10.1136/postgradmedj2019-136527. Epub 2019 Jul 10.; Capo V, Penna S, Merelli I, et al. Expanded circulating hematopoietic stem/progenitor cells as novel cell source for the treatment of TCIRG1 osteopetrosis. Haematologica. 2021 Jan 1;106(1):74-86. doi:10.3324/haematol.2019.238261.; Schulz AS, Moshous D, Steward CG, et al. Osteopetrosis. Consensus Guidelines for Diagnosis, Therapy and Follow-Up. 2015. https://Esid.Org/.2015.654.; Coudert AE, De Vernejoul MC, Muraca M, et al. Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton. Int J Endocrinol. 2015;2015:372156. doi:10.1155/2015/372156. Epub 2015 Mar 19.; Devi R, Siddaiahgari S, Lingappa L, et al. Case Report – Autosomal Recessive Infantile Malignant Osteopetrosis in India with novel mutation in TCIRG1 gene. European journal of human genetics. 2010;18:92.; Orchard PJ, Fasth AL, Le Rademacher JL, et al. Hematopoietic stem cell transplantation for infantile osteopetrosis. Blood. 2015 Jul 9; 126(2):270-6. doi:10.1182/blood-2015-01-625541. Epub 2015 May 26.; Ferrari G, Thrasher AJ, Aiuti A. Gene therapy using haematopoietic stem and progenitor cells. Nat Rev Genet. 2021 Apr;22(4): 216-34. doi:10.1038/s41576-020-00298-5. Epub 2020 Dec 10.; Zhilyaev VM, Arapova SD, Mamedova EO, et al. Osteopetrosis: the follow-up of the disease in a patient who underwent hematopoietic stem cell transplantation at the age of 27 years. Osteoporosis and bone diseases. 2020; 23(1):14-9. doi:10.14341/osteo12434; Thrasher AJ, Williams DA. Evolving gene therapy in primary immunodeficiency. Mol Ther. 2017 May 3;25(5):1132-41. doi:10.1016/ j.ymthe.2017.03.018. Epub 2017 Mar 31.; Löfvall H, Rothe M, Schambach A, et al. Hematopoietic stem cell-targeted neonatal gene therapy with a clinically applicable lentiviral vector corrects osteopetrosis in oc/oc mice. Hum Gene Ther. 2019 Nov;30(11): 1395-404. doi:10.1089/hum.2019.047. Epub 2019 Jul 3.; Even-Or E, Stepensky P. How we approach malignant infantile osteopetrosis. Pediatr Blood Cancer. 2021 Mar;68(3):e28841. doi:10.1002/pbc.28841. Epub 2020 Dec 12.; Stepensky P, Grisariu S, Avni B, et al. Stem cell transplantation for osteopetrosis in patients beyond the age of 5 years. Blood Adv. 2019 Mar 26;3(6):862-8. doi:10.1182/bloodadvances.2018025890.; Key LL Jr, Rodriguiz RM, Willi SM, et al. Long-term treatment of osteopetrosis with recombinant human interferon gamma. N Engl J Med. 1995 Jun 15;332(24):1594-9. ssdoi: 10.1056/NEJM199506153322402.; Николаев НС, Борисова ЛВ, Дидиченко СН и др. ОПТ и эндопротезирование – клиническое наблюдение. Наука и инновации в медицине. 2017;2(4):65-72.
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3Academic Journal
Συγγραφείς: D. D. Nadyrshina, A. R. Zaripova, A. V. Tyrin, V. L. Akhmetova, R. I. Khusainova, Д. Д. Надыршина, А. Р. Зарипова, А. В. Тюрин, В. Л. Ахметова, Р. И. Хусаинова
Πηγή: Medical Genetics; Том 21, № 10 (2022); 23-27 ; Медицинская генетика; Том 21, № 10 (2022); 23-27 ; 2073-7998
Θεματικοί όροι: остеопетроз, osteogenesis imperfecta, osteopetrosis, несовершенный остеогенез
Περιγραφή αρχείου: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/2158/1625; Van Dijk F., Sillence D. Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment. Am. J. Med. Genet. Part A. 2014;164:1470-1481. https://doi.org/10.1002/ajmg.a.36545.; Zaripova A., Khusainova R. Modern classification and molecular-genetic aspects of osteogenesis imperfecta. Vavilov J. Genet. Breed. 2020;24:219-227. https://doi.org/10.18699/vj20.614.; Malfait F., Francomano C., Byers P. et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am. J. Med. Genet. C. Semin. Med. Genet. 2017;175:8-26. https://doi.org/10.1002/ajmg.c.31552.; Stark Z., Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009; 20;4:5. doi:10.1186/1750-1172-4-5.; http: /www.ncbi.nlm.nih.gov/RefSeq; https://oi.gene.le.ac.uk; https://eds.gene.le.ac.uk; http: /gnomad.broadinsitute.org; Bliznetz, E., Tverskaya, S., Zinchenko, R. et al. Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. Eur J Hum Genet. 2009; 17, 664-672. https://doi.org/10.1038/ejhg.2008.234; Lindahl K., Åström E., Rubin et al. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesisimperfecta. Eur. J. Hum. Genet. 2015; 23:1042-1050. https://doi.org/10.1038/ejhg.2015.81.; Symoens S., Syx D., Malfait F. et al.Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012;33:1485-1493. https://doi.org/10.1002/humu.22137.
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4Academic Journal
Συγγραφείς: Lviv State Oncological Regional Treatment, M.R. Sheremet, O.I. Dorosh, O.A. Petronchak, Yu.S. Masynyk
Πηγή: Sovremennaya pediatriya; № 4(84) (2017): Sovremennaya pediatriya; 124-133
Современная педиатрия; № 4(84) (2017): Современная педиатрия; 124-133
Сучасна педіатрія; № 4(84) (2017): Сучасна педіатрія; 124-133Θεματικοί όροι: дети, инфантильный злокачественный остеопетроз, апаллический синдром, 03 medical and health sciences, 0302 clinical medicine, children, infantile malignant osteopetrosis, apallic syndrome, діти, інфантильний злоякісний остеопетроз, апалічний синдром, 3. Good health
Περιγραφή αρχείου: application/pdf
Σύνδεσμος πρόσβασης: http://sp.med-expert.com.ua/article/view/SP.2017.84.124
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5Academic Journal
Συγγραφείς: A. A. Vishnevskiy, А. А. Вишневский
Πηγή: Research and Practical Medicine Journal; Том 5, № 3 (2018); 126-135 ; Research'n Practical Medicine Journal; Том 5, № 3 (2018); 126-135 ; 2410-1893 ; 10.17709/2409-2231-2018-5-3
Θεματικοί όροι: туберкулезный спондилит, infectious spondylitis, the CLCN7 gene mutation, osteopetrosis, palliative surgical treatment, inheritance, tuberculous spondylitis, инфекционные спондилиты, мутация гена CLCN7, остеопетроз, паллиативное хирургическое лечение, тип наследования
Περιγραφή αρχείου: application/pdf
Relation: https://www.rpmj.ru/rpmj/article/view/301/262; Albers-Schonberg H. Roentgenbilder einer seltenen Knochennerkrankung. Munch Med Wochenschr. 1904. 5, 51:365.; ЯкуповаЭ.В.,КрасавцеваТ.Н.,МахонинВ.Б.,БайрамгуловР.Р., Степанова Р.Н., Халилова А.И. Остеопетроз (обзор литературы и описание собственных наблюдений). Вопросы гематологии, онкологии и иммунопатологии в педиатрии. 2006;5(1):40-3.; Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone. 2008 Jan;42(1):19-29. DOI:10.1016/j.bone.2007.08.029; Senel K, Ugur M, Erdal A, Özdemir H. Type II autosomal dominant osteopetrosis. Rheumatol Int. 2002 Jul;22(3):116-8. DOI:10.1007/s00296-002-0200-4; Bonapace G, Moricca M, Talarico V, Graziano F, Pensabene L, Miniero R. Identification of two novel mutations on CLCN7 gene in a patient with malignant ostopetrosis. Ital J Pediatr. 2014 Nov 20;40:90. DOI:10.1186/s13052-014-0090-6; Gillani S, Zaheer Abbas Z. Malignant Infantile Osteopetrosis. J Ayub Med Coll Abbottabad. 2017 Apr-Jun;29(2):350-352.; Rajathi M, Austin RD, Mathew P, Bharathi CS, Srivastava KC. Autosomal-dominant osteopetrosis: an incidental finding. Indian J Dent Res. 2010 Oct-Dec;21(4):611-4. DOI:10.4103/09709290.74234.; Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, et al. Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 2001 Dec 1;10(25):2861-7.; Wang C, Zhang H, He JW, Gu JM, Hu WW, Hu YQ, et al. The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families. J Bone Miner Metab. 2012 May;30(3):338-48. DOI:10.1007/s00774-011-0319-z; Zheng H, Shao C, He JW, Fu WZ, Wang C, Zhang ZL. Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II). J Bone Miner Metab. 2016 Jul;34(4):440-6. DOI:10.1007/s00774-015-0682-2.; Liu YP, Lin XH, Yan MY, Lin BQ, Zhuo MY. Debridement in chronic osteomyelitis with benign osteopetrosis: A case report. Exp Ther Med. 2016 Nov;12(5):2811-2814. DOI:10.3892/etm.2016.3706; Alsharidi A, Alsuwaida A. Carbonic anhydrase II deficiency: report of a novel mutation. CEN Case Rep. 2016 May;5(1):108112. DOI:10.1007/s13730-015-0205-y; Xiaohong D, Jin LX, Zheng ZW, Yanli Z, Ying H, Tielin Y, Hongwen D. Deficiency of ATP6V1H Causes bone loss by inhibiting bone resorption and bone formation through the TGF-β1 Pathway. Theranostics. 2016 Sep 13;6(12):2183-2195. DOI:10.7150/thno.17140; Armstrong DG, Newfield JT, Gillespie R. Orthopedic management of osteopetrosis: results of a survey and review of the literature. J Pediatr Orthop 1999;19(1):122-32.; Stark Z, Savarirayan R. Osteopetrosis. Orphanet. J Rare Dis. 2009;20:4Р5. DOI:10.1186/1750-1172-4-5; Calvin C, Wu CС, Econs MJ, Di Meglio LA, Insogna KL, Levine MA, Orchard P, et al. Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group. J Clin Endocrinol Metab. 2017 Sep 1;102(9):3111-3123. DOI:10.1210/jc.2017-01127.; Jayachandran S, Kumar MS. A paradoxical presentation of rickets and secondary osteomyelitis of the jaw in Type II autosomal dominant osteopetrosis: Rare case reports. Indian J Dent Res. 2016 Nov-Dec;27(6):667-671. DOI:10.4103/0970-9290.199603; Katsevman GA, Turner RC, Lucke-Wold BP, Sedney CL, Bhatia S. Osteopathia striata with cranial sclerosis (OSCS): review of the literature and case report demonstrating challenges of spinal fusion after trauma. Acta Neurochir (Wien). 2016 Jun;158(6):111520. DOI:10.1007/s00701-016-2794-4.; Rathod AK, Dhake RP. Borde MD. Traumatic multiple cervical spine injuries in a patient with osteopetrosis and its management. Eur Spine J. 2017 May;26(Suppl 1):229-235. DOI:10.1007/s00586-017-5083-x; Hatz D, Esposito PW, Schroeder B, Burke B, Lutz R, Hasley BP. The Incidence of spondylolysis and spondylolisthesis in children with osteogenesis imperfecta. J Pediatr Orthop. 2011 Sep;31(6):655-60. DOI:10.1097/BPO.0b013e31822889c9; Mohapatra B, Kishen T, Diwan AD. Multiple lumbar pedicle fractures in osteopetrosis. A case report. Spine (Phila Pa 1976). 2010 Apr 15;35(8):E311-5. DOI:10.1097/BRS.0b013e3181c39082; Suzuki S, Awaya G. Stress fracture of the vertebral arch in osteopetrosis. Clin Orthop Relat Res. 1986 Dec;(213):232-6.; Matrane AE, Issami S, Bsiss MA. Marble bone disease: the role of SPECT/CT hybrid imagin. Arch Pediatr. 2016 Jul;23(7):7148. DOI:10.1016/j.arcped.2016.04.009; Zheng LC, OuYang XL, Liu GC, Zhang WJ, Zhang XM. Tc99(m)-MDP imaging of osteopetrosis. Case report. Medicine. 2015;94(22):e929 DOI:10.1097/MD.0000000000000929; Ramkishan D, Narsimulu SY. De conservative Vs operative management of long bone fractures in osteopetrosis: long term study in 12 yrs period. J. Evolution Medical Dental Science. 2016;5(69):5003-6. DOI:10.14260/jemds/2016/1136; https://www.rpmj.ru/rpmj/article/view/301
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6Academic Journal
Συγγραφείς: Olga N. Ignatovich, Leyla S. Namazova-Baranova, Тea V. Мargieva, Guzal Т. Yakhyaeva, Natalia V. Zhurkova, Кirill V. Savostyanov, Alexander A. Pushkov, Ivan A. Krotov, О. Н. Игнатович, Л. С. Намазова-Баранова, Т. В. Маргиева, Г. Т. Яхяева, Н. В. Журкова, К. В. Савостьянов, А. А. Пушков, И. А. Кротов
Πηγή: Pediatric pharmacology; Том 15, № 3 (2018); 224-232 ; Педиатрическая фармакология; Том 15, № 3 (2018); 224-232 ; 2500-3089 ; 1727-5776
Θεματικοί όροι: костное ремоделирование, osteoporosis, osteopetrosis, blue sclerae, d entinogenesis imperfecta, markers of bone turnover, несовершенный остеогенез, переломы, остеопороз, остеопетроз, голубые склеры, несовершенный дентиногенез, маркеры
Περιγραφή αρχείου: application/pdf
Relation: https://www.pedpharma.ru/jour/article/view/1629/1011; Rauch F, Glorieux FH. Osteogenesis imperfecta. Lancet. 2004;363(9418):1377–1385. doi:10.1016/S0140- 6736(04)16051-0.; Zambrano Marina B, Félix Têmis M, de Mello Elza D. Difference between between methods for estimation of basal metabolic rate and body composition in pediatric patients with osteogenesis imperfecta. Ann Nutr Metab. 2018;72(1):21–29. doi:10.1159/000481918.; Rizkallah J, Schwartz S, Rauch F, et al. Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes. Am J Orthod Dentofacial Orthop. 2013;143(3):336–341 doi:10.1016/j. ajodo.2012.10.016.; Bardai G, Moffatt P, Glorieux FH, Rauch F. DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. Osteoporos Int. 2016;27(12):3607–3613 doi:10.1007/s00198-016-3709-1.; Forlino A, Marini JC. Osteogenesis imperfecta. Lancet. 2016;387(10028):1657–1671. doi:10.1016/S0140- 6736(15)00728-X.; Marini JC. Osteogenesis imperfecta. In: Nelson WE, Behrman RE, Kliegman RM, Arvin AM, editors. Nelson textbook of pediatrics. 18th ed. Philadelphia, USA: W.B. Saunders Company; 2007. pp. 2887–2890.; iofbonehealth.org [Internet]. Radiological assessment and bone turnover markers. Radiological assessment of vertebral fracture [cited 2018 Apr 12]. Available from: https://www.iofbonehealth.org/ radiological-assessment-and-bone-turnover-markers.; ifcc.org [Internet]. International Osteoporosis Foundation. IOF-IFCC study summarizes fracture prediction strength of reference bone turnover markers [cited 2018 Apr 12]. Available from: http://www.ifcc.org/media/252902/BTM-release-Feb2014-final.pdf.; Szulc P, Delmas PD. Biochemical markers of bone turnover: potential use in the investigation and management of postmenopausal osteoporosis. Osteoporos Int. 2008;19(12):1683– 1704. doi:10.1007/s00198-008-0660-9.; Bauer DC. Biochemical markers of bone turnover: the Study of Osteoporotic Fracture. In: Eastell R, Baumann M, Hoyle N, Wieczorek L, editors. Bone markers — biochemical and clinical perspectives. London, UK: Martin Dunitz; 2001. pp. 219–223.; Dobnig H, Piswanger-Solkner JC, Obermayer-Pietsch B, et al. Hip and nonvertebral fracture prediction in nursing home patients: role of bone ultrasound and bone marker measurements. J Clin Endocrinol Metab. 2007;92(5):1678–1686. doi:10.1210/jc.2006- 2079.; Tromp AM, Ooms ME, Popp-Snijders C, et al. Predictors of fractures in elderly women. Osteoporos Int. 2000;11(2):134–140. doi:10.1007/PL00004174.; Martin E, Shapiro JR. Osteogenesis imperfecta:epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91–97.; Monti E, Mottes M, Fraschini P, et al. Current and emerging treatments for the management of osteogenesis imperfecta. Ther Clin Risk Manag. 2010;6:367–381. doi:10.2147/TCRM.S5932.; Basel D, Steiner RD. Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med. 2009;11(6):375–385. doi:10.1097/GIM.0b013e3181a1ff7b.; Byers PH, Tsipouras P, Bonadio JF, et al. Perinatal lethal Osteogenesis Imperfecta (OI Type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet. 1988;42(2):237–248.; Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A(6):1470–1481. doi:10.1002/ajmg.a.36545.; Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101–116.; Homan EP, Rauch F, Grafe I, et al. Mutations in SERPINF1 cause osteogenesis imperfecta type VI. J Bone Miner Res. 2011;26(12):2798–2803. doi:10.1002/jbmr.487.; Rauch F, Moffatt P, Cheung M, et al. Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.–14C>T mutation in all patients. J Med Genet. 2012;50(1):21–24. doi:10.1136/jmedgenet-2012-101307.; Chang PC, Lin SY, Hsu KH. The craniofacial characteristics of osteogenesis imperfecta patients. Eur J Ort. 2006;29(3):232–237. doi:10.1093/ejo/cjl035.; Rizkallah J, Schwartz S, Rauch F, et al. Evaluation of the severity of malocclusions in children affected by osteogenesis imperfecta with the peer assessment rating and discrepancy indexes. Am J Orthod Dentofacial Orthop. 2013;143(3):336–341. doi:10.1016/j. ajodo.2012.10.016.; Thomas IH, DiMeglio LA. Advances in the classification and treatment of osteogenesis imperfecta. Curr Osteoporos Rep. 2016;14(1):1–9. doi:10.1007/s11914-016-0299-y.; Trejo P, Rauch F. Osteogenesis imperfecta in children and adolescents — new developments in diagnosis and treatment. Osteoporos Int. 2016;27(12):3427–3437. doi:10.1007/s00198- 016-3723-3.; Lindahl K, Langdahl B, Ljunggren O, Kindmark A. Therapy of endocrine disease: treatment of osteogenesis imperfecta in adults. Eur J Endocrinol. 2014;171(2):R79–R90. doi:10.1530/eje-14- 0017.; Marini JC, Forlino A, Cabral WA, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28(3):209–221. doi:10.1002/humu.20429.; Cho TJ, Lee KE, Lee SK. A single recurrent mutation in the 5’-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012;91(2):343–348. doi:10.1016/j.ajhg.2012.06.005.; Semler O, Garbes L, Keupp K, et al. A mutation in the 5’-UTR of IFITM5 creates an in-frame start codon and causes autosomaldominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet. 2012;91(2):349–357. doi:10.1016/j. ajhg.2012.06.011.; Becker J, Semler O, Gilissen C, et al. Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2011;88(3):362–371. doi:10.1016/j.ajhg.2011.01.015.; Pyott SM, Schwarze U, Christiansen HE, et al. Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet. 2011;20(8):1595–1609. doi:10.1093/hmg/ ddr037.; Alanay Y, Avaygan H, Camacho N, et al. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010;86(4):551–559. doi:10.1016/j.ajhg.2010.02.022.; Marini JC, Reich A, Smith SM. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr. 2014;26(4):500–507. doi:10.1097/ MOP.0000000000000117.; Kadler KE, Holmes DF, Trotter JA, Chapman JA. Collagen fibril formation. Biochem J. 1996;316(Pt 1):1–11. doi:10.1042/ bj3160001.; Byers PH. Osteogenesis imperfecta: perspectives and opportunities. Curr Opin Pediatr. 2000;12(6):603–609. doi:10.1097/00008480-200012000-00016.; Rowe DW, Shapiro JR. Osteogenesis imperfecta. In: Avioli LV, Krane SM, editors. Metabolic bone disease and clinically related disorders. 3rd ed. San Diego: Academic Press; 1998. pp. 651–695.; Gioia R, Panaroni C, Besio R, et al. Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy. Stem Cells. 2012;30(7):1465–1476. doi:10.1002/stem.1107.; Canty EG. Procollagen trafficking, processing and fibrillogenesis. J Cell Sci. 2005;118(7):1341–1353. doi:10.1242/jcs.01731.; Andriotis OG, Chang SW, Vanleene M, et al. Structure–mechanics relationships of collagen fibrils in the osteogenesis imperfecta mouse model. J R Soc Interface. 2015;12(111):20150701. doi:10.1098/rsif.2015.0701.; Lindahl K, Åström E, Rubin C-J, et al. Genetic epidemiology, prevalence, and genotype–phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet. 2015;23(8):1042–1050. doi:10.1038/ejhg.2015.81.; Bailey A. Molecular mechanisms of ageing in connective tissues. Mech Ageing Dev. 2001;122(7):735–755. doi:10.1016/s0047- 6374(01)00225-1.; Huang RP, Ambrose CG, Sullivan E, Haynes RJ. Functional significance of bone density measurements in children with osteogenesis imperfecta. J Bone Joint Surg Am. 2006;88:1324– 1330. doi:10.2106/JBJS.E.00333.; Bachrach LK. Consensus and controversy regarding osteoporosis in the pediatric population. Endocr Pract. 2007;13(5):513–520. doi:10.4158/EP.13.5.513.; Viora E, Sciarrone A, Bastonero S, et al. Increased nuchal translucency in the first trimester as a sign of osteogenesis imperfecta. Am J Med Genet. 2002;109(4):336–337. doi:10.1002/ajmg.1033.; Marini JC, Cabral WA, Barnes AM. Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. Cell Tissue Res. 2010;339(1):59–70. doi:10.1007/s00441-009-0872-0.; van Dijk FS, Byers PH, Dalgleish R, et al. EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta. Eur J Hum Genet. 2012;20(1):11–19. doi:10.1038/ejhg.2011.141.; Vasikaran S, Eastell R, Bruyère O, et al. Markers of bone turnover for the prediction of fracture risk and monitoring of osteoporosis treatment: a need for international reference standards. Osteoporosis Int. 2011;22:391–420. doi:10.1007/s00198-010-1501-1.; Seibel MJ. Biochemical markers of bone turnover: part I: biochemistry and variability. Clin Biochem Rev. 2005;26(4):97–122.; Eastell R, Walsh JS. Bone: microarchitecture of bone predicts fractures in older women. Nat Rev Endocrinol. 2018;14(5):255– 256. doi:10.1038/nrendo.2018.27.; Robins SP. Fibrillogenesis and maturation of collagens. In: Seibel MJ, Robins SP, Bilezikian JP, editors. Dynamics of bone and cartilage metabolism. San Diego: Academic Press; 1999. pp. 31–42. doi:10.1016/B978-012088562-6/50002-9.; Szulc P, Delmas P. Biochemical markers of bone turnover: potential use in the investigation and management of ostmenopausal osteoporosis. Osteoporos Int. 2008;19:1683–1704. doi:10.1007/ s00198-008-0660-9.; Garnero P, Vergnaud P, Hoyle N. Evaluation of a fully automated serum assay for total N-terminal propeptide of type I collagen in postmenopausal osteoporosis. Clin Chem. 2008;54(1):188–196. doi:10.1373/clinchem.2007.094953.; Garnero P, Ferreras M, Karsdal MA, et al. The type I collagen fragments ICTP and CTX reveal distinct enzymatic pathways of bone collagen degradation. J Bone Miner Res. 2003;18(5):859–867. doi:10.1359/jbmr.2003.18.5.859.; Gajewska J, Ambroszkiewicz J, Laskowska-Klita T. Osteoprotegerin and C-telopeptide of type I collagen in polish healthy children and adolescents. Adv Med Sci. 2006;51:269–272.; Halleen JM, Alatalo SL, Suominen H, et al. Tartrate-resistant acid phosphatase 5b: a novel serum marker of bone resorption. J Bone Miner Res. 2000;15:1337–1345. doi:10.1359/ jbmr.2000.15.7.1337.; Kaija H. Tartrate-resistant acid phosphatase: three-dimensional structure and structure-based functional studies. Studies on the enzyme using recombinant protein produced by baculovirus expression vector system in insect cells. Oulu, Finland: University of Oulu; 2002. pp. 27–30. doi:10.1359/jbmr.1999.14.3.424.; Capeller B, Caffier H, Sutterlin MW, Dietl J. Evaluation of tartrate-resistant acid phosphatase (TRAP) 5b serum marker of bone metastases in human breast cancer. Anticancer Res. 2003;23(2A):1011–1015.; Delmas PD, Eastell R, Garnero P, et al. The use of biochemical markers of bone turnover in osteoporosis. Committee of Scientific Advisors of the International Osteoporosis Foundation. Osteoporos Int. 2000;11 Suppl 6:S2–17.; Baumgrass R, Williamson MK, Price PA. Identification of peptide fragments generated by digestion of bovine and human osteocalcin with the lysosomal proteinases cathepsin B, D, L, H, and S. J Bone Miner Res. 1997;12:447–455. doi:10.1359/jbmr.1997.12.3.447.; Pedersen BJ, Schlemmer A, Hassager C, Christiansen C. Changes in the carboxyl-terminal propeptide of type I procollagen and other markers of bone formation upon five days of bed rest. Bone. 1995;17(1):91–95. doi:10.1016/8756-3282(95)00149-8.; Garnero P, Fledelius C, Gineyts E, et al. Decreased betaisomerization of the C-terminal telopeptide of type I collagen alpha 1 chain in Paget’s disease of bone. J Bone Miner Res. 1997;12(9):1407–1415. doi:10.1359/jbmr.1997.12.9.1407.; Garnero P, Bauer DC, Mareau E, et al. Effects of PTH and alendronate on type I collagen isomerization in postmenopausal women with osteoporosis: the PaTH study. J Bone Miner Res. 2008;23(9):1442–1448.doi:10.1359/jbmr.080413.; Freisinger P, Stanescu V, Jacob B, et al. Achondrogenesis type IB (Fraccaro): study of collagen in the tissue and in chondrocytes cultured in agarose. Am J Med Genet. 1994;49(4):439–446. doi:10.1002/ajmg.1320490418.; Waller S, Kurzawinski T, Spitz L, et al. Neonatal severe hyperparathyroidism: genotype/phenotype correlation and the use of pamidronate as rescue therapy. Eur J Pediatr. 2004;163(10):589– 594. doi:10.1007/s00431-004-1491-0.; Whyte MP. Hypophosphatasia: an overview for 2017. Bone. 2017;102:15–25. doi:10.1016/j.bone.2017.02.011.; Schmidt T, Amling M, Barvencik F. Hypophosphatasia: what is currently available for treatment? Internist (Berl). 2016;57(12):1145–1154. doi:10.1007/s00108-016-0147-2.; Millán JL, Narisawa S, Lemire I, et al. Enzyme replacement therapy for murine hypophosphatasia. J Bone Miner Res. 2008;23(6):777– 787. doi:10.1359/jbmr.071213.; Paterson CR, McAllion SJ. Classical osteogenesis imperfecta and allegations of nonaccidental injury. Clin Orthop Relat Res. 2006;452:260–264. doi:10.1097/01.blo.0000229344.79963.31.; Jerry R. Dwek, the radiographic approach to child abuse. Clin Orthop Relat Res. 2011;469(3):776–789. doi:10.1007/s11999- 010-1414-5.; van Dijk FS, Pals G, van Rijn RR, et al. Classification of osteogenesis imperfecta revisited. Eur J Med Genet. 2010;53(1):1– 5. doi:10.1016/j.ejmg.2009.10.007.; Steiner RD, Pepin M, Byers PH. Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. J Pediatr. 1996;128(4):542–547. doi:10.1016/S0022- 3476(96)70367-0.; Mokete L, Robertson A, Viljoen D, Beighton P. Bruck syndrome: congenital joint contractures with bone fragility. J Orthop Sci. 2005;10(6):641–646. doi:10.1007/s00776-005-0958-9.; Colombi M, Dordoni C, Cinquina V, et al. A classical EhlersDanlos syndrome family with incomplete presentation diagnosed by molecular testing. Eur J Med Genet. 2018;61(1):17–20. doi:10.1016/j.ejmg.2017.10.005.; Cole DE, Carpenter TO. Bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. J Pediatr. 1987;110(1):76–80. doi:10.1016/s0022-3476(87)80292-5.; Frontali M, Stomeo C, Dallapiccola B. Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. Am J Med Genet. 1985;22(1):35–47. doi:10.1002/ajmg.1320220104.; Lee DH, Wenkert D, Whyte MP, et al. Congenital blindness and osteoporosis-pseudoglioma syndrome. J AAPOS. 2003;7(1):75–77. doi:10.1067/mpa.2003.S109185310300051X.; Teebi AS, Al-Awadi SA, Marafie MJ, et al. Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association. J Med Genet. 1988;25(1):32–36. doi:10.1136/jmg.25.1.32.; Hussain MM, Strickland DK, Bakillah A. The mammalian lowdensity lipoprotein receptor family. Annu Rev Nutr. 1999;19:141– 172. doi:10.1146/annurev.nutr.19.1.141.; Allen CM, Claman L, Feldman R. The acro-osteolysis (Hadju-Cheney) syndrome. Review of the literature and report of a case. J Periodontol. 1984;55(4):224–229. doi:10.1902/ jop.1984.55.4.224.; Armstrong L, Jimenez C, Hunter AG. A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa. Am J Med Genet. 2003;119A:57– 62. doi:10.1002/ajmg.a.10175.; Paul R, Kapoor S, Puri R, Bijarnia S. Gerodermia osteodysplastica. Indian J Pediatr. 2004;71(12):e77–79.; Villa А, Pangrazio A, Caldana E, et al. Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation. Cytotechnology. 2008;58(1):57–62. doi:10.1007/s10616-008- 9165-9.; Wilson C, Vellodi A. Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child. 2000;83(5):449–452. doi:10.1136/adc.83.5.449.; Pettifor JM. Vitamin D deficiency and nutritional rickets in children. In: Feldman D, Pike JW, Glorieux FH, editors. Vitamin D. 2nd ed. Boston, MA, USA: Elsevier Academic Press; 2005. pp. 1065– 1084. doi:10.1016/b978-012252687-9/50068-1.; Krassas GE. Idiopathic juvenile osteoporosis. Ann N Y Acad Sci. 2000;900:409–412. doi:10.1111/j.1749-6632.2000.tb06253.x.; Kim JW, Simmer JP. Hereditary dentin defects. J Dent Res. 2007;86(5):392–399. doi:10.1177/154405910708600502.; Walter JD. The use of overdentures in patients with dentinogenesis imperfecta. J Paediatr Dent. 1988;4(1):17–25.; Butler WT. Dentin matrix problems. Eur J Oral Sci. 1998;106:204– 210. doi:10.1111/j.1600-0722.1998.tb02177.x.; Robinson C, Collins MT, Boyce AM. Fibrous dysplasia/McCuneAlbright Syndrome: clinical and translational perspectives. Curr Osteoporos Rep. 2016;14(5):178–186. doi:10.1007/s11914- 016-0317-0.; Prie D, Huart V, Bakouh N, et al. 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Bone Rep. 2017;7:90–97. doi:10.1016/j.bonr.2017.09.002.; https://www.pedpharma.ru/jour/article/view/1629
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7Academic Journal
Συγγραφείς: Petrushin A.L., Tyusova N.N., Nekhoroshkova T.V.
Πηγή: Traumatology and Orthopedics of Russia; Vol 22, No 1 (2016); 136-150 ; Травматология и ортопедия России; Vol 22, No 1 (2016); 136-150 ; 2542-0933 ; 2311-2905 ; 10.21823/2311-2905-2016-0-1
Θεματικοί όροι: osteodysplasias, sclerotic osteodysplasias, osteosclerosis, osteopetrosis, osteopoikilosis, enostosis, склеротические остеодисплазии, остеосклероз, остеопетроз, остеопойкилия, эностоз
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Relation: https://journal.rniito.org/jour/article/view/34/34; https://journal.rniito.org/jour/article/view/34
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8Academic Journal
Συγγραφείς: МИСЬКО Л.В., МИСЬКО Ю.Л., ЮРЧИШЕНА Э.В., ЮРЧИШЕН О.М.
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9Academic Journal
Συγγραφείς: Белозерцева, Л., Щаднева, С., Каткова, М., Скатова, О., Пархоменко, Ю., Калягин, Алексей
Θεματικοί όροι: ОСТЕОПЕТРОЗ, «МРАМОРНАЯ» БОЛЕЗНЬ, СИНДРОМ АЛЬБЕРС-ШЁНБЕРГА, КЛИНИКА, ДИАГНОСТИКА, КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ, ALBERS-SCHöNBERG SYNDROME
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10Academic Journal
Συγγραφείς: Сахаровская, Е., Резник, И., Дубровин, М., Павлова, Г., Щербина, А.
Θεματικοί όροι: ОСТЕОПЕТРОЗ, МУТАЦИЯ, РЕНТГЕНОЛОГИЧЕСКОЕ ИССЛЕДОВАНИЕ, ДЕТИ
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11Academic Journal
Συγγραφείς: Жантлеуова А.Р., Кадржанова Г.Б., Сейтказыкызы А.
Θεματικοί όροι: врожденный остеосклероз, гиперостотическая дисплазия, остеопетроз, болезнь Альберс-Шенберга, патологические переломы, склерозированная костная ткань
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12Academic Journal
Συγγραφείς: Романова, Т. А., Подсвирова, Е. В., Сысоева, Н. Я., Рубцова, Л. В., Руднева, Е. И.
Θεματικοί όροι: медицина, педиатрия, болезни детей, дети, болезни костей, остеопетроз
Διαθεσιμότητα: http://dspace.bsu.edu.ru/handle/123456789/54100
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13Academic Journal
Συγγραφείς: Старк, З., Саварирайан, Р.
Θεματικοί όροι: ОСТЕОПЕТРОЗ, ЭТИОПАТОГЕНЕЗ, КЛИНИКА, ДИАГНОЗ, ЛЕЧЕНИЕ
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14Academic Journal
Συγγραφείς: Сахаровская, Е., Stepensky, P., Rheingold, L., Дубровин, М., Игнатова, Д., Щербина, А., Резник, И.
Θεματικοί όροι: ОСТЕОПЕТРОЗ,
"МРАМОРНАЯ БОЛЕЗНЬ", КЛИНИЧЕСКАЯ ХАРАКТЕРИСТИКА, ДИФФЕРЕНЦИАЛЬНАЯ ДИАГНОСТИКА Περιγραφή αρχείου: text/html
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15Academic Journal
Πηγή: Здоровье ребенка.
Θεματικοί όροι: ДЕТИ,CHILDREN,НАСЛЕДСТВЕННЫЙ ГЕНЕРАЛИЗОВАННЫЙ ОСТЕОПЕТРОЗ,БОЛЕЗНЬ АЛЬБЕРС-ШЕНБЕРГА,МРАМОРНАЯ БОЛЕЗНЬ,НАСЛЕДСТВЕННЫЙ ЗЛОКАЧЕСТВЕННЫЙ ОСТЕОПЕТРОЗ,HEREDITARY MALIGNANT OSTEOPETROSIS,ГЕНЕРАЛИЗОВАННЫЙ ОСТЕОСКЛЕРОЗ,GENERALIZED OSTEOSCLEROSIS,ДіТИ,СПАДКОВИЙ ГЕНЕРАЛіЗОВАНИЙ ОСТЕОПЕТРОЗ,ХВОРОБА АЛЬБЕРС-ШЕНБЕРГА,МАРМУРОВА ХВОРОБА,СПАДКОВИЙ ЗЛОЯКіСНИЙ ОСТЕОПЕТРОЗ,ГЕНЕРАЛіЗОВАНИЙ ОСТЕОСКЛЕРОЗ,HEREDITARY GENERALIZED OSTEOPETROSIS,ALBERS SHONBERG DISEASE,MARBLE-BONE DISEASE, 3. Good health
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16Academic Journal
Πηγή: Современная ревматология.
Θεματικοί όροι: ОСТЕОПЕТРОЗ, «МРАМОРНАЯ» БОЛЕЗНЬ, СИНДРОМ АЛЬБЕРС-ШЁНБЕРГА, КЛИНИКА, ДИАГНОСТИКА, КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ, ALBERS-SCHöNBERG SYNDROME, 3. Good health
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17Academic Journal
Πηγή: Онкогематология.
Θεματικοί όροι: 0202 electrical engineering, electronic engineering, information engineering, 02 engineering and technology, ОСТЕОПЕТРОЗ, МУТАЦИЯ, РЕНТГЕНОЛОГИЧЕСКОЕ ИССЛЕДОВАНИЕ, ДЕТИ, 3. Good health
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18Academic Journal
Πηγή: Вестник Алматинского государственного института усовершенствования врачей.
Θεματικοί όροι: врожденный остеосклероз, гиперостотическая дисплазия, остеопетроз, болезнь Альберс-Шенберга, патологические переломы, склерозированная костная ткань, 3. Good health
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19Academic Journal
Συγγραφείς: Stepensky, P., Rheingold, L.
Πηγή: Онкогематология.
Θεματικοί όροι: ОСТЕОПЕТРОЗ, 'МРАМОРНАЯ БОЛЕЗНЬ', КЛИНИЧЕСКАЯ ХАРАКТЕРИСТИКА, ДИФФЕРЕНЦИАЛЬНАЯ ДИАГНОСТИКА, 3. Good health
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20Academic Journal
Πηγή: Нефрология.
Θεματικοί όροι: 03 medical and health sciences, 0302 clinical medicine, ОСТЕОПЕТРОЗ, ЭТИОПАТОГЕНЕЗ, КЛИНИКА, ДИАГНОЗ, ЛЕЧЕНИЕ, 3. Good health
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