The 25 references in paper J. Leviashvili G., N. Savenkova D., I. Anichkova V., Ж. Левиашвили Г., Н. Савенкова Д., И. Аничкова В. (2015) “ОСОБЕННОСТИ ПАТОЛОГИИ ПОЧЕК У ДЕТЕЙ С LOWE СИНДРОМОМ // RENAL PATHOLOGY FEATURES IN CHILDREN WITH LOWE SYNDROME” / spz:neicon:nefr:y:2015:i:6:p:53-60

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Lowe CU, Terry M, McLachlan EA. Organic aciduria, descreased renale ammoniac production, hydrophtalmos and mental retardation. A clinical entity. Am J Dis Chil 1952; 83: 164
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Юрьева ЭА. Тубулопатии. В: Игнатова МС, ред. Детская нефрология: руководство для врачей. Мед информ агентство, М., 2011; Гл. 21: 358-389. [Jur’eva Je. A. Tubulopatii V: Ignatova MS red. Detskaja nefrologija: rukovodstvo dlja vrachej. Med inform agentstvo, M., 2011; Gl. 21: 358–389]
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Папаян КА, Савенкова НД, Левиашвили НГ, Левиашвили ЖГ. Окуло-церебро-ренальный синдром Лоу. Рос вестн перинатол педиат 1998; 4: 39–43 [Papajan KA, Savenkova ND, Leviashvili NG, Leviashvili ZhG. Okulo-cerebro-renal’nyj sindrom Lou. Ros vestn perinatol pediat 1998; 4: 39–43]
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Савенкова НД, Папаян АВ, Левиашвили ЖГ. Синдром Фанкони при окулоцереброренальном синдроме Lowe. В: Савенкова НД, ред. Тубулопатии в практике педиатра. Левша. Санкт-Петербург, СПб., 2000; 59-61 [Savenkova ND, Papajan AV, Leviashvili ZhG. Sindrom Fankoni pri okulocerebrorenal’nom sindrome Lowe. V: Savenkova ND, red. Tubulopatii v praktike pediatra. Levsha. Sankt-Peterburg, SPb, 2000; 59-61]
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Папаян АВ, Савенкова НД, Левиашвили ЖГ. Наследственный синдром де Тони – Дебре – Фанкони. В: Клиническая нефрология детского возраста. Левша. Санкт-Петербург, СПб, 2000; 208-218 [Papajan AV, Savenkova ND. Leviashvili ZhG. Nasledstvennyj sindrom de Toni – Debre – Fankoni. V: Klinicheskaja nefrologija detskogo vozrasta. Levsha. Sankt-Peterburg, SPb, 2000; 208-218]
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Савенкова НД, Папаян АВ. Нефротический синдром при синдроме Лоу. В: Нефротический синдром в практике педиатра. Эскулап, С-Пб, 1999; 152-155 [Savenkova ND, Papajan AV. Nefroticheskij sindrom pri sindrome Lou. V: Nefroticheskij sindrom v praktike pediatra. Jeskulap, S-Pb, 1999; 152-155]
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ández R, Balkin DM, Messa M. et al. A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells [Electronic resource] eLife : open-access j. Electronic data. Cambridge, 2014; Vol. 3 Mode of access: http:// elifesciences.org/content/3/e02975, free
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Nussbaum RL, Orrison BM, Janne PA, Charnas L, Chinault AC. Physical mapping and genomic structure of the Lowe syndrome gene OCRL- 1. J Hum Genet 1997; 99: 2: 145–150
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Yamamoto M, Akatsu T, Nagase T, et al. Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism, and those with gain-of-function, mutations in the calcium-sensing receptor: it is possible to differentiate the two disorders. J Clin Endocrinol Metab 2000; 85 (12): 4583–4591
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Coca SG, Relly RF. The oculocerebrorenal syndrome of Lowe. In: Lifton RP, Somlo S, Giebisch GH, Seldin DW. ed. Genetic diseases of the kidney. ELSEVIER, 2009; 587-596
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Zhang YQ, Wang F, Ding J, Yan H, YangYL. Novel OCRL mutations in Chinese children with Lowe syndrome. World J Pediatr 2013; 9 (1): 53–57
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Peces R, Peces C, Sousa E, et al. A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome. Int Urol Nephrol 2013; 45 (6): 1767–1771
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Igarashi T. Fanconi syndrome. Pediatric nephrology. In: Avner E, Harmon W, Niaudet P. ed. Springer-Verlag, Berlin, 2009; Vol 1: 1039–1067
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Ono J, Harada K, Mano T, Yamamoto T, Okada S. MR findings and neurologic manifestations in Lowe oculocerebrorenal syndrome. Pediatr Neurol 1996; 14 (2): 162–164
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Chen H. Atlas of Genetic Diagnosis and Counseling. Humana Press, 2006; 1069
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Hayasaka S, Jamada T, Nitta K, et al. Ascorbic acid and amino acid values in the aqueous humor of a patient with Lowe’s syndrome. Graefes Arch Clin Exp Ophthalmol 1997; 235 (4): 217–221
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Tasic V, Lozanovski VJ, Korneti P, et al. Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatr Nephrol 2011; 26 (4): 557-562
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Gropman A, Levin S, Yao L, et al. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet 2000; 18: 95 (5): 461–466
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Sethi SK, Bagga A, Gulati A et al. Mutations in OCRL1 gene in Indian children with Lowe syndrome. Clin Exp Nephrol
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8; 12 (5): 358–362 20. Liu T, Yue Z, Wang H et al. Novel Mutation of OCRL1 in Lowe Syndrome. Indian J Pediatr 2015; 82(1):89-92
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Recker F, Zaniew M, Böckenhauer D et al. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol 2015; 30 (6): 931–943
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Левиашвили ЖГ, Савенкова НД, Мусаева АВ, Белов ДЮ. Показатели неорганического фосфата, паратиреоидного гормона крови и почечной канальцевой реабсорбции фосфатов у детей с наследственным гипофосфатемическим рахитом. Нефрология 2014; 18 (3): 45–56 [Leviashvili ZhG, Savenkova ND, Musaeva AV, Belov DJu. Pokazateli neorganicheskogo fosfata, paratireoidnogo gormona krovi i pochechnoj kanal’cevoj reabsorbcii fosfatov u detej s nasledstvennym gipofosfatemicheskim rahitom. Nefrologija 2014; 18 (3): 45–56]
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Kim HK, Kim JH, Kim YM, et al. Lowe syndrome: a single center’s experience in Korea. Korean j of pediatr 2014; 57(3): 140–148
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Loi M. Lowe syndrome. Orphanet j of rare dis 2006; 18(1): 16
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Хватова АВ, Хлебникова ОВ, Новиков ПВ. Особенности диагностики, клиники и лечения больных с врожденными катарактами при наследственных нарушениях обмена веществ и синдромах. В: Детская офтальмология, итоги и перспективы. Научно-практическая конференция. М., 2006; 91-96 [Hvatova
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