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1Academic Journal
المؤلفون: Ластівка, І., Анцупова, В., Бабінцева, А., Юрків, О., Шейко, Л., Брішевац, Л.
المصدر: Neonatology, Surgery and Perinatal Medicine; Vol. 14 No. 2(52) (2024): NEONATOLOGY, SURGERY AND PERINATAL MEDICINE; 135-144 ; Неонатология, хирургия и перинатальная медицина; Том 14 № 2(52) (2024): НЕОНАТОЛОГІЯ, ХІРУРГІЯ ТА ПЕРИНАТАЛЬНА МЕДИЦИНА; 135-144 ; Неонатологія, хірургія та перинатальна медицина; Том 14 № 2(52) (2024): НЕОНАТОЛОГІЯ, ХІРУРГІЯ ТА ПЕРИНАТАЛЬНА МЕДИЦИНА; 135-144 ; 2413-4260 ; 2226-1230
مصطلحات موضوعية: синдром Вільямса- Бойрена, вроджені вади розвитку, стеноз легеневої артерії, надклапанний стеноз аорти, гіперкальціємія, нефрокальциноз, FISH-метод, ген еластину ELN, Williams- Beuren Syndrome, Congenital Malformations, Pulmonary Artery Stenosis, Supravalvular Stenosis of the Aorta, Hypercalcemia, Nephrocalcinosis, FISH-method, Elastin Gene ELN
وصف الملف: application/pdf
Relation: http://neonatology.bsmu.edu.ua/article/view/307730/299291; http://neonatology.bsmu.edu.ua/article/view/307730/299325; http://neonatology.bsmu.edu.ua/article/view/307730
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2Academic Journal
المؤلفون: Aleksander A. Baranov, Tatiana T. Batysheva, Olga V. Bykova, Nato D. Vashakmadze, Elena V. Vislobokova, Alisa V. Vitebskaya, Elena A. Vishneva, Victoria Yu. Voynova, Natalia V. Zhurkova, Ekaterina Yu. Zakharova, Larisa P. Kisel'nikova, Mikhail M. Kostik, Sergey I. Kutsev, Tea V. Margieva, Leyla S. Namazova-Baranova, Svetlana V. Mikhaylova, Sergey V. Moiseev, Tatyana S. Nagornaya, Liliia R. Selimzyanova, Alla N. Semyachkina, Olga Ya. Smirnova, Marina V. Fedoseenko, Svetlana V. Pishchal'nikova, А. А. Баранов, Т. Т. Батышева, О. В. Быкова, Н. Д. Вашакмадзе, Е. В. Вислобокова, А. В. Витебская, Е. А. Вишнева, В. Ю. Воинова, Н. В. Журкова, Е. Ю. Захарова, Л. П. Кисельникова, М. М. Костик, С. И. Куцев, Т. В. Маргиева, Л. С. Намазова-Баранова, С. В. Михайлова, С. В. Моисеев, Т. С. Нагорнова, Л. Р. Селимзянова, А. Н. Семячкина, О. Я. Смирнова, М. В. Федосеенко, С. В. Пищальникова
المساهمون: Not specified., Отсутствует.
المصدر: Pediatric pharmacology; Том 20, № 4 (2023); 318-336 ; Педиатрическая фармакология; Том 20, № 4 (2023); 318-336 ; 2500-3089 ; 1727-5776
مصطلحات موضوعية: дети, alkaline phosphatase, nephrocalcinosis, treatment, children, щелочная фосфатаза, нефрокальциноз, лечение
وصف الملف: application/pdf
Relation: https://www.pedpharma.ru/jour/article/view/2343/1521; Whyte MP. Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4):233-246. doi: https://doi.org/10.1038/nrendo.2016.14; Millan JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2016;98(4):398-416. doi: https://doi.org/10.1007/s00223-015-0079-1; Mornet E, Yvard A, Taillandier A, et al. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75(3):439-445. doi: https://doi.org/10.1111/j.1469-1809.2011.00642.x; Гуркина Е.Ю., Воинова В.Ю., Кузенкова Л.М. и др. Гипофосфатазия. Обзор клинических случаев, опубликованных в РФ // РМЖ. — 2021. — № 2. — С. 42-48.; Tsang T, Raghuwanshi MP. Hypophosphatasia Misdiagnosed as Osteoporosis in a Young Girl. J Endocr Soc. 2021;5(Suppl 1):A201-A202. doi: https://doi.org/10.1210/jendso/bvab048.409; Whyte MP, Zhang F, Wenkert D, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 2015;75:229-239. doi: https://doi.org/10.1016/j.bone.2015.02.022; Bishop N, Munns CF, Ozono K. Transformative therapy in hypophosphatasia. Arch Dis Child. 2016;101(6):514-515. doi: https://doi.org/10.1136/archdischild-2015-309579; Anderson HC, Harmey D, Camacho NP, et al. Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. Am J Pathol. 2005;166(6):1711-1720. doi: https://doi.org/10.1016/S0002-9440(10)62481-9; Braunstein NA. Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia. Bone Rep. 2016;4:1-4. doi: https://doi.org/10.1016/j.bonr.2015.10.005; Whyte M. Hypophosphatasia. In: Genetics of bone biology and skeletal disease. Thakker RV, Whyte MP, Eisman J, Igarashi T, eds. London: Academic Press; 2013. pp. 337-360.; Whyte MP, Coburn SP, Ryan LM, et al. Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. Bone. 2018;110:96-106. doi: https://doi.org/10.1016/j.bone.2018.01.022; Rush ET. Childhood hypophosphatasia: to treat or not to treat. Orphanet J Rare Dis. 2018;13(1):116. doi: https://doi.org/10.1186/s13023-018-0866-7; Simon S, Resch H, Klaushofer K, et al. Hypophosphatasia: From Diagnosis to Treatment. Curr Rheumatol Rep. 2018;20(11):69. doi: https://doi.org/10.1007/s11926-018-0778-5; Khan AA, Josse R, Kannu P, et al. Hypophosphatasia: Canadian update on diagnosis and management. Osteoporos Int. 2019;30(9):1713-1722. doi: https://doi.org/10.1007/s00198-019-04921-y; Mornet E. Hypophosphatasia. Metabolism. 2018;82:142-155. doi: https://doi.org/10.1016/j.metabol.2017.08.013; Briot K, Roux C. Adult hypophosphatasia. Arch Pediatr. 2017;24(5S2):5S71-5S73. doi: https://doi.org/10.1016/S0929-693X(18)30018-6; Kishnani PS, Rush ET, Arundel P, et al. Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Mol Genet Metab. 2017;122(1-2):4-17. doi: https://doi.org/10.1016/j.ymgme.2017.07.010; Michigami T, Ohata Y, Fujiwara M, et al. Clinical Practice Guidelines for Hypophosphatasia. Clin Pediatr Endocrinol. 2020;29(1):9-24. doi: https://doi.org/10.1297/cpe.29.9; Estey MP, Cohen AH, Colantonio DA, et al. CLSI-based transference of the CALIPER database of pediatric reference intervals from Abbott to Beckman, Ortho, Roche and Siemens Clinical Chemistry Assays: direct validation using reference samples from the CALIPER cohort. Clin Biochem. 2013;46(13-14):1197-1219. doi: https://doi.org/10.1016/j.clinbiochem.2013.04.001; Ройтман А.П., Мамедов И.С., Сухоруков В.С. Референтные интервалы активности щелочной фосфатазы у детей в сыворотке крови. Лабораторная диагностика гипофосфатазии // Лабораторная служба. — 2015. — Т. 4. — № 1. — С. 35-41. — doi: https://doi.org/10.17116/labs20154135-41; Whyte MP, Leung E, Wilcox W, et al. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. In: Poster presented at the 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting. Vancouver, B.C., Canada, May 5, 2014. Abstract 752416.; Villa-Suarez JM, Garci'a-Fontana C, Andujar-Vera F, et al. Hypophosphatasia: A Unique Disorder of Bone Mineralization. Int J Mol Sci. 2021;22(9):4303. doi: https://doi.org/10.3390/ijms22094303; Christine Hofmann C, Girschick H, Mornet E, et al. Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. Eur J Hum Genet. 2914;22(10):1160-1164. doi: https://doi.org/10.1038/ejhg.2014.10; Mornet E. Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations. Subcell Biochem. 2015;76:25-43. doi: https://doi.org/10.1007/978-94-017-7197-9_2; Ishiguro T, Sugiyama Y, Ueda K, et al. Findings of amplitude-integrated electroencephalogram recordings and serum vitamin B6 metabolites in perinatal lethal hypophosphatasia during enzyme replacement therapy. Brain Dev. 2019;41(8):721-725. doi: https://doi.org/10.1016/j.braindev.2019.03.015; Martos-Moreno GA, Calzada J, Couce ML, Argente J. Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options. An Pediatr (Engl Ed). 2018;88(6):356. e1-356.e11. doi: https://doi.org/10.1016/j.anpedi.2017.06.004; Fukazawa M, Tezuka J, Sasazuki M, et al. Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. Brain Dev. 2018;40(2):140-144. doi: https://doi.org/10.1016/j.braindev.2017.07.015; Di Rocco F, Baujat G, Cormier-Daire V, et al. Craniosynostosis and hypophosphatasia. Arch Pediatr. 2017;24(5S2):5S89-5S92. doi: https://doi.org/10.1016/S0929-693X(18)30022-8; Vogt M, Girschick H, Schweitzer T, et al. Pediatric hypophos-phatasia: lessons learned from a retrospective single-center chart review of 50 children. Orphanet J Rare Dis. 2020;15(1):212. doi: https://doi.org/10.1186/s13023-020-01500-x; Collmann H, Mornet E, Gattenlohner S, et al. Neurosurgical aspects of childhood hypophosphatasia. Childs Nerv Syst. 2009;25(2):217-223. doi: https://doi.org/10.1007/s00381-008-0708-3; Graham BL, Steenbruggen I, Miller MR, et al. Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical Statement. Am J Respir Crit Care Med. 2019;200(8):e70-e88. doi: https://doi.org/10.1164/rccm.201908-1590ST; Beydon N, Davis SD, Lombardi E, et al. An official American Thoracic Society/European Respiratory Society statement: pulmonary function testing in preschool children. Am J Respir Crit Care Med. 2007;175(12):1304-1345. doi: https://doi.org/10.1164/rccm.200605-642ST; Kamran A, Jennings RW. Tracheomalacia and Tracheobronchomalacia in Pediatrics: An Overview of Evaluation, Medical Management, and Surgical Treatment. Front Pediatr. 2019;7:512. doi: https://doi.org/10.3389/fped.2019.00512; Nunes ME. Hypophosphatasia. In: GeneReviews® [Internet]. Adam MP, Everman DB, Mirzaa GM, et al., eds. Seattle (WA): University of Washington, Seattle; 1993-2022.; Whyte MP, Rockman-Greenberg C, Ozono K, et al. Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. J Clin Endocrinol Metab. 2016;101(1):334-342. doi: https://doi.org/10.1210/jc.2015-3462; Vislobokova E, Kiselnikova L, Voinova V, Sholokhova N. Dental findings in patients with hypophosphatasia. Scientific Abstracts of the 14th Congress of the European Academy of Paediatric Dentistry (EAPD) Palazzo dei Congressi, Lake Lugano, Switzerland 20th to 23rd June 2018. Eur Arch Paediatr Dent. 2019;20:152. doi: https://doi.org/10.1007/s40368-018-0390-4; Whyte MP, Greenberg CR, Salman NJ, et al. Enzymereplacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904-913. doi: https://doi.org/10.1056/NEJMoa1106173; Kitaoka T, Tajima T, Nagasaki K, et al. Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. Clin Endocrinol (Oxf). 2017;87(1):10-19. doi: https://doi.org/10.1111/cen.13343; Yamamoto H, Sasamoto Y, Miyamoto Y, et al. A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia. Pediatr Neurol. 2004;30(3):216-218. doi: https://doi.org/10.1016/j.pediatrneurol.2003.08.003; de Roo MGA, Abeling NGGM, Majoie CB, et al. Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. Mol Genet Metab. 2014;111(3):404-407. doi: https://doi.org/10.1016/j.ymgme.2013.09.014; Belachew D, Kazmerski T, Libman I, et al. Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. JIMD Rep. 2013;11:17-24. doi: https://doi.org/10.1007/8904_2013_217; Taketani T. Neurological Symptoms of Hypophosphatasia. Subcell Biochem. 2015;76:309-322. doi: https://doi.org/10.1007/978-94-017-7197-9_14; Nunes ML, Mugnol F, Bica I, Fiori RM. Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. J Child Neurol. 2002;17(3):222-224. doi: https://doi.org/10.1177/088307380201700314; Girschick HJ, Schneider P, Haubitz I, et al. Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. Orphanet J Rare Dis. 2006;1:24. doi: https://doi.org/10.1186/1750-1172-1-24; Bianchi ML, Bishop NJ, Guanabens N, et al. Hypophosphatasia in adolescents and adults: overview of diagnosis and treatment. Osteoporos Int. 2020 31(8):1445-1460. doi: https://doi.org/10.1007/s00198-020-05345-9; Correa Marquez RR, Behari G. Hypophosphatasia (HPP) Treatment & Management. In: Medscape. Updated: Jun 05, 2023. Available online: https://emedicine.medscape.com/article/945375-treatment#d6. Accessed on July 15, 2023.; Miyashita S, Ochiai S, Sakamoto С, et al. VP13.10: Prenatal ultrasound findings in a survived case of perinatal lethal hypophosphatasia with enzyme replacement therapy started early in life. Ultrasound Obstet Gynecol. 2020;56(S1):104-104. doi: https://doi.org/10.1002/uog.22519; Yang Y, Liu Z, Wei L, et al. Prosthodontic Rehabilitation of a Patient with Hypophosphatasia Using Dental Implants: A Case Report with Seven Years Follow-Up. J Prosthodont. 2021;30(9):742-746. doi: https://doi.org/10.1111/jopr.13419; Tournis S, Yavropoulou MP, Polyzos SA, Doulgeraki A. Hypophosphatasia. J Clin Med. 2021;10(23):5676. doi: https://doi.org/10.3390/jcm10235676; Linglart A, Biosse-Duplan M. Hypophosphatasia. Curr Osteoporos Rep. 2016;14(3):95-105. doi: https://doi.org/10.1007/s11914-016-0309-0; Simon S, Resch H. Treatment of hypophosphatasia. Wien Med Wochenschr. 2020;170(5-6):112-115. doi: https://doi.org/10.1007/s10354-020-00736-3; Коняхина Г.П., Захарова Н.А. Лечебная физкультура для детей с ограниченными возможностями здоровья: учебно-методическое пособие. — Челябинск; 2019. — 81 с.; Медико-психологическая помощь детям с нарушением психического развития в системе комплексной реабилитации: методические рекомендации. — М.: ДЗМ; 2018. — № 83. — 28 с.; Leung EC, Mhanni AA, Reed M, et al. Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. JIMD Rep. 2013;11:73-78. doi: https://doi.org/10.1007/8904_2013_224; https://www.pedpharma.ru/jour/article/view/2343
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3Academic Journal
المؤلفون: Зуб, Л.О., Шкарутяк, А.Є.
المصدر: Clinical and experimental pathology; Vol. 21 No. 4 (2022) ; Клиническая и экспериментальная патология; Том 21 № 4 (2022) ; Клінічна та експериментальна патологія; Том 21 № 4 (2022) ; 2521-1153 ; 1727-4338
مصطلحات موضوعية: синдром мальабсорбції, хронічна хвороба нирок, оксалурія, нефрокальциноз, бета-2-мікроглобулін, malabsorption syndrome, chronic kidney disease, oxaluria, nephrocalcinosis, beta-2-microglobulin
وصف الملف: application/pdf
Relation: http://cep.bsmu.edu.ua/article/view/274761/269881; http://cep.bsmu.edu.ua/article/view/274761
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4Academic Journal
المؤلفون: K. Pogosian A., L. Yanevskaya G., A. Semenova N., M. Molotkova A., G. Berkovich V., D. Ryzhkova V., L. Belousova V., U. Tsoi A., К. Погосян А., Л. Яневская Г., А. Семенова Н., М. Молоткова А., Г. Беркович В., Д. Рыжкова В., Л. Белоусова В., У. Цой А.
المساهمون: Th is publication was accomplished within the framework of the state assignment of the Ministry of Health of the Russian Federation (№ АААА-А20-120092490047-2), Данная публикация сделана в рамках государственного задания Министерства Здравоохранения Российской Федерации (№ АААА-А20-120092490047-2)
المصدر: Medical Herald of the South of Russia; Том 13, № 1 (2022); 102-108 ; Медицинский вестник Юга России; Том 13, № 1 (2022); 102-108 ; 2618-7876 ; 2219-8075 ; 10.21886/2219-8075-2022-13-1
مصطلحات موضوعية: primary hyperparathyroidism, fi brocystic osteitis, hungry bone syndrome, brown tumors, neprocalcinosis, первичный гиперпаратиреоз, фиброзно-кистозный остеит, синдром «голодных костей», бурые опухоли, нефрокальциноз
وصف الملف: application/pdf
Relation: https://www.medicalherald.ru/jour/article/view/1489/877; https://www.medicalherald.ru/jour/article/downloadSuppFile/1489/556; https://www.medicalherald.ru/jour/article/downloadSuppFile/1489/557; https://www.medicalherald.ru/jour/article/downloadSuppFile/1489/558; https://www.medicalherald.ru/jour/article/downloadSuppFile/1489/560; Melton LJ 3rd. The epidemiology of primary hyperparathy-roidism in North America. J Bone Miner Res. 2002;17 Suppl 2:N12-7. PMID: 12412772.; Yanevskaya LG, Karonova T, Sleptsov IV, Boriskova ME, Bakhtiyarova AR, et al. Clinical phenotypes of primary hyperparathyroidism in hospitalized patients who underwent parathyroidectomy. Endocr Connect. 2021;10(2):248-255. DOI:10.1530/EC-20-0515.; Hamidi S, Mottard S, Berthiaume MJ, Doyon J, Bégin MJ, Bondaz L. Brown tumor of the iliac crest initially misdiagnosed as a giant cell tumor of the bone. Endocrinol Diabetes Metab Case Rep. 2020;2020:20-0029. DOI:10.1530/EDM-20-0029. Epub ahead of print.; Witteveen JE, van Th iel S, Romijn JA, Hamdy NA. Hungry bone syndrome: still a challenge in the post-operative man-agement of primary hyperparathyroidism: a systematic re-view of the literature. Eur J Endocrinol. 2013;168(3):R45-53. DOI:10.1530/EJE-12-0528.; Ferraz-de-Souza B. Th e evolution of primary hyperpara-thyroidism. Arch Endocrinol Metab. 2015;59(5):381-2. DOI:10.1590/2359-3997000000124.; Naji Rad S, Deluxe L. Osteitis Fibrosa Cystica. StatPearls. Treasure Island (FL): StatPearls Publishing; 2021.; Makras P, Anastasilakis AD. Bone disease in primary hyper-parathyroidism. Metabolism. 2018;80:57-65. DOI:10.1016/j.metabol.2017.10.003.; Bandeira F, Cusano NE, Silva BC, Cassibba S, Almeida CB, et al. Bone disease in primary hyperparathyroidism. Arq Bras Endocrinol Metabol. 2014;58(5):553-61. DOI:10.1590/0004-2730000003381.; Bilezikian JP, Cusano NE, Khan AA, Liu JM, Marcocci C, Bandeira F. Primary hyperparathyroidism. Nat Rev Dis Primers. 2016;2:16033. DOI:10.1038/nrdp.2016.33.; Мокрышева Н.Г., Еремкина А.К., Мирная С.С., Крупи-нова Ю.А., Воронкова И.А., и др. Клинические рекомендации по первичному гиперпаратиреозу, краткая версия. Проблемы Эндокринологии. 2021;67(4):94-124. DOI:10.14341/probl12801; Wilhelm SM, Wang TS, Ruan DT, Lee JA, Asa SL, et al. Th e American Association of Endocrine Surgeons Guide-lines for Defi nitive Management of Primary Hyperparathyroidism. JAMA Surg. 2016;151(10):959-968. DOI:10.1001/jamasurg.2016.2310.; Bilezikian JP. Primary Hyperparathyroidism. J Clin En-docrinol Metab. 2018;103(11):3993-4004. DOI:10.1210/jc.2018-01225.; Misiorowski W, Bilezikian JP. Osteitis Fibrosa Cystica. JBMR Plus. 2020;4(9):e10403. DOI:10.1002/jbm4.10403.; https://www.medicalherald.ru/jour/article/view/1489
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5Academic Journal
المؤلفون: M. E. Aksenova, N. M. Zaikova, T. V. Lepaeva, V. V. Dlin, М. Е. Аксенова, Н. М. Зайкова, Т. В. Лепаева, В. В. Длин
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 66, № 1 (2021); 106-112 ; Российский вестник перинатологии и педиатрии; Том 66, № 1 (2021); 106-112 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2021-66-1
مصطلحات موضوعية: Дент-подобная тубулопатия, Donnai–Barrow syndrome, megalin, myopia, Fanconi syndrome, low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, Dent-like tubulopathy, синдром Донна–Барроу, мегалин, миопия, синдром Фанкони, низкомолекулярная протеинурия, гиперкальциурия, нефрокальциноз
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/1346/1056; Marzolo M.P., Farfán P. New insights into the roles of megalin/LRP2 and the regulation of its functional expression. Biol Res 2011; 44(1): 189–105. DOI:10.4067/S071697602011000100012; De S., Kuwahara S., Saito A. The endocytic receptor megalin and its associated proteins in proximal tubule epithelial cells. Membranes 2014; 4(3): 333–355. DOI:10.3390/membranes4030333; Fisher C.E., Howie S.E.M. The role of megalin (LRP-2/Gp330) during development. Dev Biol 2006; 296(2): 279– 297. DOI:10.1016/j.ydbio.2006.06.007; Christ A., Herzog K., Willnow T.E. LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease. Dev Dyn 2016; 245(5): 569–579. DOI:10.1002/dvdy.24394; Baardman M.E., Zwier M.V., Wisse L.J., Gittenberger-de Groot A.C., Kerstjens-Frederikse W.S., Hofstra R.M.W. et al. Common arterial trunk and ventricular non-compaction in Lrp2 knockout mice indicate a crucial role of LRP2 in cardiac development. Disease Models & Mechanisms 2016; 9: 413–42. DOI:10.1242/dmm.022053; Storm T., Heegaard S., Christensen E.I., Nielsen R. Megalin deficiency causes high myopia, retinal pigment epithelium-macromelanosomes and abnormal development of the ciliary body in mice. Cell Tissue Res 2014; 358(1): 99–107. DOI:10.1007/s00441-014-1919-4; Cases O., Joseph A., Obry A., Santin M.D., Ben-Yacoub S., Pâques M. et al. Foxg1-Cre mediated Lrp2 inactivation in the developing mouse neural retina, ciliary and retinal pigment epithelia models congenital high myopia. PLoS One 2015; 10: e0129518. DOI:10.1371/journal.pone.0129518; Greer J., Babiuk R., Thebaud B. Etiology of Congenital Diaphragmatic Hernia: The Retinoid Hypothesis. Pediatr Res 2003; 53(5): 726–730. DOI:10.1203/01.PDR.0000062660.12769.E6; Wynn Y., Yu L., Chung W.K. Genetic causes of congenital diaphragmatic hernia. Semin Fetal Neonatal Med 2014; 19(6): 324–330. DOI:10.1016/j.siny.2014.09.003.; Tedja M.S., Haarman A.E.G., Meester-Smoor M.A., Verhoeven V.J.M., Klaver C.C.W., MacGregor S. The Genetics of Myopia. In: M. Ang, T. Wong (eds). Updates on Myopia. Springer, Singapore, 2020. DOI:10.1007/978-981-13-8491-2_5; Chassaing N., Lacombe D., Carles D., Calvas P., Saura R., Bieth E. Donnai-Barrow syndrome: four additional patients. Am J Med Genet A 2003; 121A(3): 258–262. DOI:10.1002/ajmg.a.20266; Khalifa O., Al-Sahlawi Z., Imtiaz F., Ramzan K., Allam R., Al-Mostafa A. et al. Variable expression pattern in Donnai-Barrow syndrome: report of two novel LRP2 mutations and review of the literature. Eur J Med Genet 2015; 58(5): 293–299. DOI:10.1016/j.ejmg.2014.12.008; Pober B.R., Longoni M., Noonan K.M. A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: clinical features and differential diagnosis. Birth Defects Res A Clin Mol Teratol 2009; 85(7): 76–81. DOI:10.1002/bdra.20534; Schrauwen I., Sommen M., Claes C., Pinner J., Flaherty M., Collins F., Van Camp G. Broadening the phenotype of LRP2 mutations: A new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. Clin Genet 2014; 86(3): 282–286. DOI:10.1111/cge.12265; Dachy A., Paquot F., Debray G., Bovy C., Christensen E.I., Collard L., Jouret F. In-depth phenotyping of a Donnai–Barrow patient helps clarify proximal tubule dysfunction. Pediatr Nephrol 2015; 30(3):1027–1031. DOI:10.1007/s00467014-3037-7; Kantarci S., Al-Gazali L., Hill R.S., Donnai D., Black G.C.M., Bieth E. et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet 2007; 39(8): 957– 959. DOI:10.1038/ng2063; Anglani F., Terrin L., Brugnara M., Battista M., Cantaluppi V., Ceol M. et al. Hypercalciuria and nephrolithiasis: expanding the renal phenotype of Donnai-Barrow syndrome. Clin Genet 2018; 94(1): 187–188. DOI:10.1111/cge.13242; Flemming J., Marczenke M., Rudolph I.M., Nielsen R., Storm T., Erik I.C. et al. Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome. Kidney Int 2020; 98(1): 159–167. DOI:10.1016/j.kint.2020.02.021; Shaheen I.S., Finlay E., Prescott K., Russell M., Longoni M., Joss S. Focal segmental glomerulosclerosis in a female patient with Donnai–Barrow syndrome. Clin Dysmorphol 2010; 19(1): 35–37. DOI:10.1097/MCD.0b013e328333c20a; Storm T., Tranebj rg L., Frykholm C., Birn H., Verroust P.J., Nevéus T. et al. Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. Nephrol Dial Transplant 2013; 28(3): 585–591. DOI:10.1093/ndt/gfs462; Yoshida H. ER stress and diseases. FEBS J 2007; 274(3): 630– 658. DOI:10.1111/j.1742-4658.2007.05639.x; Li Q., Lei F., Tang Y., Pan J.S., Tong Q., Sun Y., Sheikh-Hamad D. Megalin mediates plasma membrane to mitochondria cross-talk and regulates mitochondrial metabolism. Cell Mol Life Sci 2018; 75(21): 4021–4040. DOI:10.1007/s00018018-2847-3; Johannes L., Popoff V. Tracing the retrograde route in protein trafficking. Cell 2008; 135(7): 1175–1187. DOI:10.1016/j.cell.2008.12.009; Nielsen R., Courtoy P.J., Jacobsen C., Dom G., Lima W.R., Jadot M. et al. Endocytosis provides a major alternative pathway for lysosomal biogenesis in kidney proximal tubular cells. Proc Natl Acad Sci U S A 2007; 104(13): 5407–5412. DOI:10.1073/pnas.0700330104; Anglani F., Gianesello L., Beara-Lasic L., Lieske J. Dent disease: A window into calcium and phosphate transport. J Cell Mol Med 2019; 23(11): 7132–7142. DOI:10.1111/jcmm.14590; Patrie K.M., Drescher A.J., Welihinda A., Mundel P., Margolis B. Interaction of two actin-binding proteins, synaptopodin and alpha-actinin-4, with the tight junction protein MAGI-1. J Biol Chem 2002; 277(33): 30183–30190. DOI:10.1074/jbc.M203072200; Stora S., Conte M., Chouery E., Richa S., Jalkh N., Gillart A.C. et al. A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation. Eur J Med Genet 2009; 52(5): 341–343. DOI:10.1016/j.ejmg.2009.06.005; https://www.ped-perinatology.ru/jour/article/view/1346
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6Academic Journal
المؤلفون: Ciuntu, A.O., Bernic, J.V., Берник, Ж.В., Balanuța, A., Bujor, D.
المصدر: Buletin de Perinatologie 89 (4) 61-65
مصطلحات موضوعية: medullary sponge kidney, nephrocalcinosis, медуллярная губчатая почка, нефрокальциноз, rinichi spongios medular, nefrocalcinoză
وصف الملف: application/pdf
Relation: https://ibn.idsi.md/vizualizare_articol/121016; urn:issn:18105289
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7
المصدر: Clinical and experimental pathology; Vol. 21 No. 4 (2022)
Клиническая и экспериментальная патология; Том 21 № 4 (2022)
Клінічна та експериментальна патологія; Том 21 № 4 (2022)مصطلحات موضوعية: синдром мальабсорбції, бета-2-мікроглобулін, nephrocalcinosis, оксалурія, malabsorption syndrome, хронічна хвороба нирок, beta-2-microglobulin, oxaluria, chronic kidney disease, нефрокальциноз
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: B. Kulu, O. Sancakli, O. Sakallioglu, Б. Кулу, О. Санчакли, О. Сакаллиоглу
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 63, № 2 (2018); 70-72 ; Российский вестник перинатологии и педиатрии; Том 63, № 2 (2018); 70-72 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2018-63-2
مصطلحات موضوعية: CLCN5, tubulopathy, nephrolithiasis, nephrocalcinosis, Dent’s disease, нефролитиаз, тубулопатия, нефрокальциноз, болезнь Дента
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/648/622; Wrong O. Nephrocalcinosis. In: Oxford Textbook of Clinical Nephrology. A. Davison, J. Cameron, J. Grünfeld (eds).; Oxford, Oxford University Press 2005; 1375.; Ludwig M., Utsch B., Monnens L. Recent advances in understanding the clinical and genetic heterogeneity of Dent’s disease. Nephrol Dial Transplant 2006; 21: 2708–2717. DOI:10.1093/ndt/gfl346; Thakker R. Pathogenesis of Dent’s disease and related syndromes of X-linked nephrolithiasis. Kidney Int 2000; 57: 787–793.; Bockenhauer D., Bokenkamp A., Nuutinen M., Unwin R., Van’t Hoff W., Sirimanna T., Vrljicak K., Ludwig M. Novel OCRL mutations in patients with Dent-2 disease. J Pediatr Genet 2012; 1: 15–23. DOI:10.3233/PGE-2012–005; Ludwig M., Utsch B., Balluch B., Fründ S., Kuwertz-Bröking E., Bökenkamp A. Hypercalciuria in patients with CLCN5 mutations. Pediatr Nephrol 2006; 21: 1241–1250. DOI:10.1007/s00467-006-0172-9; Hoopes R.Jr., Raja K., Koich A., Hueber P., Reid R., Knohl S.J., Scheinman S.J. Evidence for genetic heterogeneity in Dent’s disease. Kidney Int 2004; 65: 1615–1620. DOI:10.1111/j.1523–1755.2004.00571.x; Edvardsson V., Goldfarb D., Lieske J Beara-Lasic L., Anglani F., Milliner D.S., Palsson R. Hereditary causes of kidney stones and chronic kidney disease. Pediatr Nephrol 2013; 28: 1923–1942. DOI:10.1007/s00467-012-2329-z; Devuyst O., Thakker R. Dent’s disease. Orphanet J Rare Dis 2010; 5: 28. DOI:10.1186/1750-1172-5-28; Scheinman S. X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations. Kidney Int 1998; 53: 3–17.; Raja K., Schurman S., D’mello R. Blowey D., Goodyer P., Van Why S., Ploutz-Snyder R.J., Asplin J., Scheinman S.J. Responsiveness of hypercalciuria to thiazide in Dent’s disease. J Am Soc Nephrol 2002; 13: 2938–2944.; Blanchard A., Vargas-Poussou R., Peyrard S., Mogenet A., Baudouin V., Boudailliez B., Charbit M. et al. Effect of hydrochlorothiazide on urinary calcium excretion in Dent disease: an uncontrolled trial. Am J Kidney Dis 2008; 52: 1084– 1095. DOI:10.1053/j.ajkd.2008.08.021; https://www.ped-perinatology.ru/jour/article/view/648
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9Academic Journal
المؤلفون: T. V. Mihajlova, D. I. Sadykova, T. V. Pudovik, Т. В. Михайлова, Д. И. Садыкова, Т. В. Пудовик
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 62, № 5 (2017); 106-110 ; Российский вестник перинатологии и педиатрии; Том 62, № 5 (2017); 106-110 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2017-62-5
مصطلحات موضوعية: нефрокальциноз, Williams syndrome, supravalvular aortic stenosis, arterial hypertension, hypercalcemia, nephrocalcinosis, синдром Вильямса, надклапанный стеноз аорты, артериальная гипертензия, гиперкальциемия
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/559/546; Williams J.C., Barratt-Boyes B.G., Lowe J.B. Supravalvular aortic stenosis. Circulation 1961; 24: 1311–1318.; Beuren A.J., Apitz J., Harmjanz D. Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance. Circulation 1962; 26: 1235–1240.; Micale L., Turturo M.G., Fusco C., Augello B., Pérez Jurado L.A., Izzi C. et al. Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. Eur J Hum Genet 2010; 18: 317–323. DOI:10.1038/ejhg.2009.181; Pober B.R., Johnson M., Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. J Clin Invest 2008; 118: 1606–1615. DOI:10.1172/JCI35309; Collins R.T. 2nd, Kaplan P., Somes G.W., Rome J.J. Longterm outcomes of patients with cardiovascular abnormalities and Williams syndrome. Am J Cardiol 2010; 105: 874–878. DOI:10.1016/j.amjcard.2009.10.069; Collins R.T. 2nd, Aziz P.F., Gleason M.M., Kaplan P.B., Shah M.J. Abnormalities of cardiac repolarization in Williams syndrome. Am J Cardiol 2010; 106: 1029–1033. DOI:10.1016/j.amjcard.2010.05.041; Bouchireb K., Boyer O., Bonnet D., Brunelle F., Decramer S., Landthaler G. et al. Clinical features and management of arterial hypertension in children with Williams-Beuren syndrome. Nephrol Dial Transplant 2010; 25: 434–438. DOI:10.1093/ndt/gfp522; Sugitani H., Hirano E., Knutsen R.H., Shifren A., Wagenseil J.E., Ciliberto C. et al. Alternative splicing and tissuespecific elastin misassembly act as biological modifiers of human elastin gene frameshift mutations associated with dominant cutis laxa. J Biol Chem 2012; 287: 22055–22067. DOI:10.1074/jbc.M111.327940; Pober B.R. Williams-Beuren syndrome. N Engl J Med 2010; 362: 239–252. DOI:10.1056/NEJMra0903074; Axelsson S., Bjornland T., Kjaer I., Heiberg A., Storhaug K. Dental characteristics in Williams syndrome: a clinical and radiographic evaluation. Acta Odontol Scand 2003; 61: 129–136.; Stagi S., Lapi E., Chiarelli F., de Martino M. Incidence of diverticular disease and complicated diverticular disease in young patients with Williams syndrome. Pediatr Surg Int 2010; 26: 943–944. DOI:10.1007/s00383-010-2666-6; Eisenberg D.P., Jabbi M., Berman K.F. Bridging the genebehavior divide through neuroimaging deletion syndromes: Velocardiofacial (22q11.2 Deletion) and Williams (7q11.23 Deletion) syndromes. Neuroimage 2010; 53: 857–869. DOI:10.1016/j.neuroimage.2010.02.070; Gothelf D., Farber N., Raveh E., Apter A., Attias J. Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities. Neurology 2006; 66: 390–395. DOI:10.1212/01.wnl.0000196643.35395.5f; John A.E., Mervis C.B. Sensory modulation impairments in children with Williams syndrome. Am J Med Genet 2010; 154C (Part C): 266–276. DOI:10.1002/ajmg.c.30260; Sforzini C., Milani D., Fossali E., Barbato A., Grumieri G., Bianchetti M.G., Selicorni A. Renal tract ultrasonography and calcium homeostasis in Williams-Beuren syndrome. Pediatr Nephrol 2002; 17: 899–902. DOI:10.1007/s00467-002-0889-z; Cagle A.P., Waguespack S.G., Buckingham B.A., Shankar R.R., Dimeglio LA. Severe infantile hypercalcemia associated with Williams syndrome successfully treated with intravenously administered pamidronate. Pediatrics 2004; 114: 1091–1095. DOI:10.1542/peds.2003-1146-L; Sammour Z.M., Gomes C.M., Duarte R.J., Trigo-Rocha F.E., Srougi M. Voiding dysfunction and the Williams- Beuren syndrome: a clinical and urodynamic investigation. J Urol 2006; 175: 1472–1476. DOI:10.1016/S0022-5347(05)00666-X; Marshall C.R., Young E.J., Pani A.M., Freckmann M.L., Lacassie Y., Howald C. et al. Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23- q21.11. Am J Hum Genet 2008; 83: 106–111. DOI:10.1016/j.ajhg.2008.06.001; Pham P.P., Moller J.H., Hills C., Larson V., Pyles L. Cardiac catheterization and operative outcomes from a multicenter consortium for children with Williams syndrome. Pediatr Cardiol 2009; 30: 9–14. DOI:10.1007/s00246-008-9323-z; Woodruff-Borden J., Kistler D.J., Henderson D.R., Crawford N.A., Mervis C.B. Longitudinal course of anxiety in children and adolescents with Williams syndrome. Am J Med Genet 2010; 154C (Part C): 277–290. DOI:10.1002/ajmg.c.30259; Oliveri B., Mastaglia S.R., Mautalen C., Gravano J.C., Pardo Argerich L. Long-term control of hypercalcaemia in an infant with Williams-Beuren syndrome after a single infusion of biphosphonate ( Pamidronate). Acta Paediatr 2004; 93: 1002–1003.; https://www.ped-perinatology.ru/jour/article/view/559
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10Academic Journal
المؤلفون: A. A. Baranov, L. S. Namazova-Baranova, К. V. Savostianov, Т. V. Margieva, E. A. Vishneva, G. Т. Yakhyaeva, А. А. Баранов, Л. С. Намазова-Баранова, К. В. Савостьянов, Т. В. Маргиева, Е. А. Вишнёва, Г. Т. Яхяева
المصدر: Pediatric pharmacology; Том 13, № 6 (2016); 539-543 ; Педиатрическая фармакология; Том 13, № 6 (2016); 539-543 ; 2500-3089 ; 1727-5776
مصطلحات موضوعية: дети, alkaline phosphatase, cramps, lung hypoplasia, rachitis, osteoporosis, nephrocalcinosis, treatment, children, щелочная фосфатаза, судороги, гипоплазия легких, рахит, остеопороз, нефрокальциноз, лечение
وصف الملف: application/pdf
Relation: https://www.pedpharma.ru/jour/article/view/1476/864; Whyte MP. Hypophosphatasia — aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol. 2016;12(4): 233–246. doi:10.1038/nrendo.2016.14.; Millan JL, Whyte MP. Alkaline phosphatase and hypophosphatasia. Calcif Tissue Int. 2016;98(4):398–416. doi:10.1007/s00223-015-0079-1.; Mornet E, Yvard A, Taillandier A, et al. A molecular-based estimation of the prevalence of hypophosphatasia in the European population. Ann Hum Genet. 2011;75(3):439–445. doi:10.1111/j.1469-1809.2011.00642.x.; Whyte MP, Leung E, Wilcox W, et al. Hypophosphatasia: a retrospective natural history study of the severe perinatal and infantile forms. Poster presented at the 2014 Pediatric Academic Societies and Asian Society for Pediatric Research Joint Meeting. Vancouver, B.C., Canada, May 5, 2014. Abstract 752416.; Whyte MP, Zhang F, Wenkert D, et al. Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients. Bone. 2015; 75:229–239. doi:10.1016/j.bone.2015.02.022.; Bishop N, Munns CF, Ozono K. Transformative therapy in hypophosphatasia. Arch Dis Child. 2016;101(6):514–515. doi:10.1136/archdischild-2015-309579.; Anderson HC, Harmey D, Camacho NP, et al. Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. Am J Pathol. 2005;166(6):1711–1720. doi:10.1016/S0002-9440(10)62481-9.; Braunstein NА. Multiple fractures, pain, and severe disability in a patient with adult-onset hypophosphatasia. Bone Rep. 2016;4: 1–4. doi:10.1016/j.bonr.2015.10.005.; Whyte M. Hypophosphatasia. In: Thakker RV, Whyte MP, Eisman J, Igarashi T, editors. Genetics of bone biology and skeletal disease. London: Academic Press; 2013. p. 337–360.; Whyte MP, Greenberg CR, Salman NJ, et al. Enzyme-replacement therapy in life-threatening hypophosphatasia. N Engl J Med. 2012;366(10):904–913. doi:10.1056/NEJMoa1106173.; https://www.pedpharma.ru/jour/article/view/1476
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11Academic Journal
المؤلفون: S. V. Maltsev, T. V. Mikhailova, O. A. Kravtsova, Z. R. Nurieva, С. В. Мальцев, Т. В. Михайлова, О. А. Кравцова, З. Р. Нуриева
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 60, № 5 (2015); 210-215 ; Российский вестник перинатологии и педиатрии; Том 60, № 5 (2015); 210-215 ; 2500-2228 ; 1027-4065 ; undefined
مصطلحات موضوعية: SLC26A6, hypercalciuria, nephrolithiasis, nephrocalcinosis, TRPV6, CLDN16, and SLC26A6gene polymorphisms, гиперкальциурия, нефролитиаз, нефрокальциноз. полиморфизм генов TRPV6
وصف الملف: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/183/224; Bid H.K., Kumar A., Kapoor R., Mittal R.D. Association of Vitamin D Receptor (VDR) Gene Polymorphism (Fok-I) with Calcium oxalate Nephrolithiasis. J Endourol 2005; 19: 111-115.; Monico C.G., Milliner D.S. Genetic determinants of urolithia-sis. Nature Reviews Nephrol 2011; 8: 3: 151-162.; Park S. Y., Mun H.C., Eom Y.S. et al. Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914. Gin Endo-crinol (Oxf) 2013; 78: 5: 687-693.; Chernova M.N., Jiang L., Friedman D.J. et al. Functional comparison of mouse slc26a6 anion exchanger with human SLC26A6 polypeptide variants: differences in anion selectivity, regulation, and electrogenicity. J Biol Chem 2005; 280: 8564-8580.; Giuffre M., La Placa S., Carta M. et al. Hypercalciuria and kidney calcifications in terminal 4q deletion syndrome: further evidence for a putative gene on 4q. Am J Med Genet 2004; 126A: 186-190.; Goodman И.О., Brommage R., Assimos D.G. et al. Genes in id-iopathic calcium oxalate stone disease. World J Urol 1997; 15: 186-194.; Gunes S., Bilen C.Y., Kara N. et al. Vitamin D receptor gene polymorphisms in patients with urolithiasis. Urol Res 2006; 34: 47-52.; Rendina D. MossettiG., Viceconti R. et al. Association between vitamin D receptor gene polymorphisms and fasting idiopath-ic hypercalciuria in recurrent stone-forming patients. Urology 2004; 4: 833-838.; Dimke H, Desai P., Borovac J. et al. Activation of the Ca(2+)-sensing receptor increases renal claudin-14 expression and urinary Ca(2+) excretion. Am J Physiol Renal Physiol 2013; 304: 6: F761-769.; VezzoliG., Terranegra A., Soldati L. Calcium-sensing receptor gene polymorphisms in patients with calcium nephrolithiasis. Curr OpinNephrol Hypertens 2012; 21: 4: 355-61.; Kausalya P.J., Amasheh S., Gunzel D. etal. Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of claudin-16. J Clin Invest 2006; 116: 878-891.; Mutter D., Kausalya P.J., Bockenhauer D. et al. Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. J Clin Endocr Metab 2006; 91: 3076-3079.; Thorleifsson G., Holm H, Edvardsson V. et al. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nature Genet 2009; 41: 926-930.; Weber S., Schneider L., Peters M. et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with; hypercalciuria and nephrocalcinosis. J Am Soc Nephrol 2001; 12: 1872-1881.; Morin P.J. Protein family review the claudins. Genome Biology 2009; 10:235.; Reed B.Y., Gitomer W.L., Heller HJ. et al. Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. J Clin Endocr Metab 2002; 87: 1476-1485.; Reed B. Y, Heller H.J., Gitomer W.L. et al. Mapping a gene defect in absorptive hypercalciuria to chromosome Iq23.3-q24. J Clin Endocr Metab 1999; 84: 3907-3913.; Moreira Guimaraes Penido M.G., deSousa TavaresM., Campos Linhares M. et al. Longitudinal study of bone mineral density in children with idiopathic hypercalciuria. Pediat Nephrol 2012; 27: 1:123-130.; Zerwekh J.E. Bone disease and hypercalciuria in children. Pediat Nephrol 2010; 25: 3: 395-401.; Suzuki M., Ohki G., Ishibashi K, Imai M. A single amino acid mutation results in a rapid inactivation of epithelial calcium channels. Biochem Biophys Res Commun 2002; 291: 278— 285.; HoenderopJ.G., Voets Т., HoefsS. etal. Homo-andheterotet-rameric architecture of the epithelial Ca2+ channels TRPV5 and TRPV6. EMBO J 2003; 22: 776-785.; Nijenhuis Т., Hoenderop J.G., Bindels R. TRPV5 and TRPV6 in Ca2+ (re)absorption: regulating Ca2+ entry at the gate. Pflugers Arch 2005; 451: 181-192.; Jiang Z., Asplin J.R., Evan A.P. et al. Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nature Genet 2006; 38: 474-478.; Yoo J., Seo В., Kim Y. SNPAnalyzer: a web-based integrated workbench for single-nucleotide polymorphism analysis. Nucleic Acids Research 2005; 33: 483-488.; https://www.ped-perinatology.ru/jour/article/view/183; undefined
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12Academic Journal
المؤلفون: C. V. Maltsev, T. V. Mikhailova, S. S. Vinokurova, С. В. Мальцев, Т. В. Михайлова, С. С. Винокурова
المصدر: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 61, № 5 (2016); 160-165 ; Российский вестник перинатологии и педиатрии; Том 61, № 5 (2016); 160-165 ; 2500-2228 ; 1027-4065 ; 10.21508/1027-4065-2016-61-5
مصطلحات موضوعية: снижение минеральной плотности кости, hypercalciuria, nephrolithiasis, nephrocalcinosis, low bone mineral density, гиперкальциурия, нефролитиаз, нефрокальциноз, пиелонефрит
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Relation: https://www.ped-perinatology.ru/jour/article/view/400/425; Arrabal-Polo M.A., Arrabal-Martin M., de Haro-Munoz T. et al. Mineral density and bone remodelling markers in patients with calcium lithiasis. BJU Int 2011; 108: 12: 1903– 1908.; Arrabal-Polo M.A., Arrabal-Martin M., Arias-Santiago S. et al. Metabolic-mineral study in patients with renal calcium lithiasis, severe lithogenic activity and loss of bone mineral density. Singapore Med J 2012; 53: 12: 808–813.; Aruga S., Honma Y. Renal calcium excretion and urolithiasis. Clin Calcium 2011; 21: 10: 1465–1472.; Bijelic R., Milicevic S., Balaban J. Incidence of osteoporosis in patients with urolithiasis. Med Arch 2014; 68: 5: 335–338.; Bone mineral density status in urolithiasis patients with vitamin D inadequacy followed at a tertiary stone centre. Canad Urol Ass J 2014; 8: 10: 323–328.; Celik A., Davutoglu V., Sakip Erturhan K. et al. Relationship between renal stone formation, mitral annular calcification and bone resorption markers. Ann Saudi Med.2010; 30: 8: 301–305.; Длин В.В., Османов И.М., Новиков П.В. и др. Дисмета- болическая нефропатия, мочекаменная болезнь и не- фрокальциноз у детей. М: Оверлей, 2005; 232. (Dlin V.V., Osmanov I.M., Novikov P.V. et al. Dysmetabolic nephropathy, urolithiasis and nephrocalcinosis in children. M: Overlej, 2005; 232. (in Russ)); Ryan L.E., Ing S.W. Idiopathic hypercalciuria and bone health. Curr Osteoporos Rep 2012; 10: 4: 286–295.; Sakhaee D.K., Maalouf N.M., Kumar R. et al. Nephrolithiasisassociated bone disease: pathogenesis and treatment options. Kidney Int 2011; 79: 2: 393–403.; Schwaderer A.L., Cronin R., Mahan J.D. et al. Low bone density in children with hypercalciuria and/or nephrolithiasis. Pediatr Nephrol 2008; 23: 12: 2209–2214.; Яровой С.К., Максудов P.P. Нефролитиаз и метаболические остеопатии на фоне соматических заболеваний. Экспер и клин урол 2015; 1: 108–114. (Jarovoj S.K., Maksudov P.P. Nephrolithiasis and metabolic osteopathy at various systemic diseases. Jeksper i klin urol 2015; 1: 108– 114. (in Russ)); Moreira Guimarães Penido M.G., de Sousa Tavares M., Campos Linhares M. et al. Longitudinal study of bone mineral density in children with idiopathic hypercalciuria. Pediatr Nephrol 2012; 27: 1: 123–130.; Zerwekh J.E. Bone disease and hypercalciuria in children. Pediatr Nephrol 2010; 25: 3: 395–401.; Knoll T. Epidemiology, Pathogenesis, and Pathophysiology of Urolithiasis. Eur Urol 2010; 9: 802–806.; Romero V., Akpinar H., Assimos D.G. Kidney Stones: A Global Picture of Prevalence, Incidence, and Associated Risk Factors. RevUrol 2010; 12: 2–3: 86–96.; Gunes S., Bilen C.Y., Kara N. et al. Vitamin D receptor gene polymorphisms in patients with urolithiasis. Urol Res 2006; 34: 47–52.; Dimke H., Desai P., Borovac J. et al. Activation of the Ca (2+) — sensing receptor increases renal claudin-14 expression and urinary Ca (2+) excretion. Am J Physiol Renal Physiol 2013; 304: 6: F761–769.; Thorleifsson G., Holm H., Edvardsson V. et al. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nature Genet 2009; 41: 926–930.; Muller D., Kausalya P.J., Bockenhauer D. et al. Unusual clinical presentation and possible rescue of a novel claudin-16 mutation. J Clin Endocr Metab 2006; 91: 3076–3079.; Arrabal-Polo M.A., Arias-Santiago S., de Haro-Munoz T. Effects of aminobisphosphonates and thiazides in patients with osteopenia/osteoporosis, hypercalciuria, and recurring renal calcium lithiasis. Urology 2013; 81: 731–737.; Bianchi G., Giusti A., Pioli G. Bisphosphonates in the management of idiopathic hypercalciuria associated with osteoporosis: a new trick from an old drug. Ther Adv Musculoskel Dis 2010; 2: 1: 29–35.; Смолянский Б.Л. Руководство по лечебному питанию. Л: Медицина 1981; 280. (Smoljanskij B.L. For clinical nutrition guide. L: Meditsina 1981; 280. (in Russ)); Покровский А.А., Самсонов М.А. Справочник по дието- логии I. М: Медицина 1981; 701. (Pokrovskij A.A., Samsonov M.A. Handbook of Nutrition I. Moscow: Meditsina 1981; 280. (in Russ)); https://www.ped-perinatology.ru/jour/article/view/400
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13Academic Journal
المؤلفون: Мальцев, С., Михайлова, Т., Кравцова, О.
مصطلحات موضوعية: ГИПЕРКАЛЬЦИУРИЯ, НЕФРОЛИТИАЗ, НЕФРОКАЛЬЦИНОЗ. АНАЛИЗ АССОЦИАЦИИ ПОЛИМОРФИЗМОВ ГЕНОВ TRPV6, ANALYSIS OF THE POLYMORPHISM АSSOCIATIONS OF TRPV6
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14Academic Journal
المصدر: Bukovinian Medical Herald; Vol. 16 No. 3 (63) p.1 (2012); 168-169 ; Буковинский медицинский вестник; Том 16 № 3 (63) p.1 (2012); 168-169 ; Буковинський медичний вісник; Том 16 № 3 (63) p.1 (2012); 168-169 ; 2413-0737 ; 1684-7903
مصطلحات موضوعية: гіперпаратиреоз, аденома, нефрокальциноз, операція, гиперпаратиреоз, операция, hyperparathyroidism, adenoma, nephrocalcinosis, operation
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15
المصدر: Практическая медицина.
مصطلحات موضوعية: ГИПЕРКАЛЬЦИУРИЯ, НЕФРОЛИТИАЗ, НЕФРОКАЛЬЦИНОЗ. АНАЛИЗ АССОЦИАЦИИ ПОЛИМОРФИЗМОВ ГЕНОВ TRPV6, ANALYSIS OF THE POLYMORPHISM АSSOCIATIONS OF TRPV6
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16Academic Journal
المؤلفون: Ляшук, Петро Мефодійович, Каушанська, Т.Д., Сходницький, Ігор Васильович, Ляшук, Руслана Петрівна, Liashuk, P.M., Kaushans'ka, T.D., Skhodnytskyi, I.V., Liashuk, R.P.
مصطلحات موضوعية: гіперпаратиреоз, аденома, нефрокальциноз, операція, гиперпаратиреоз, операция, hyperparathyroidism, adenoma, nephrocalcinosis, operation
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Relation: УДК 616.43:616.61; http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/14846
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17
المصدر: Буковинський медичний вісник; Том 16, № 3 (63) p.1 (2012); 168-169
Буковинский медицинский вестник; Том 16, № 3 (63) p.1 (2012); 168-169
Bukovinian Medical Herald; Том 16, № 3 (63) p.1 (2012); 168-169مصطلحات موضوعية: endocrine system diseases, гиперпаратиреоз, аденома, нефрокальциноз, операция, гіперпаратиреоз, операція, hyperparathyroidism, adenoma, nephrocalcinosis, operation
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