Готові списки джерел за темами / Hypophosphatemic Rickets

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Добірка наукової літератури з теми "Hypophosphatemic Rickets"

Автор: Grafiati

Опубліковано: 3 червня 2025

Оновлено: 31 липня 2025

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Статті в журналах з теми "Hypophosphatemic Rickets"

Maltsev, S. V., A. I. Safina та T. V. Mihajlova. "Гипофосфатемический рахит у детей — клинические и генетические аспекты, подходы к терапии". Practical medicine 19, № 1 (2021): 38–49. http://dx.doi.org/10.32000/2072-1757-2021-1-38-49.

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Анотація:

Hypophosphatemic rickets (phosphate-diabetes) is a group of diseases associated with a defect in the reabsorption of phosphates in the proximal tubules, manifested by phosphaturia, hypophosphatemia and rickets deformities of the skeleton bones. Phosphate-diabetes has different genetic variants that determine the nature and severity of clinical manifestations. X-linked dominant hypophosphatemic rickets occurs most often (in 50-90% of cases). For the diagnosis, along with clinical characteristics, an important role is assigned to the study of partial renal functions, with the determination of cl

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Varuna, Sugha, and Bharti Sapna. "A Mismanaged Case of Hypophosphatemic Rickets." International Journal of Science and Healthcare Research 7, no. 3 (2022): 375–77. http://dx.doi.org/10.52403/ijshr.20220750.

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Анотація:

X-linked hypophosphatemic rickets is a common cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of FGF23 which causes phosphaturia. Due to its rarity, X linked hypophosphatemic rickets is poorly known and diagnosis is frequently delayed. Conventional treatment is based on oral phosphate salts supplementation and activated vitamin D analogs, which however, cannot cure the disease in most cases. Keywords: X linked hypophosphatemic rickets, FGF23, PTH

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Sarat, Gummadapu, Nuthalapati Priyanka, Meka Purna Venkata Prabhat, Chintamaneni Raja Lakshmi, Sujana Mulk Bhavana, and Dharmavaram Ayesha Thabusum. "Hypophosphatemic Rickets in Siblings: A Rare Case Report." Case Reports in Dentistry 2016 (2016): 1–8. http://dx.doi.org/10.1155/2016/4803167.

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Анотація:

Hypophosphatemic rickets (HR) is a type of hereditary rickets characterized by persistent hypophosphatemia and hyperphosphaturia. The most predominant type is inherited in an X-linked fashion and caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX), identified in 1995. The X-linked hypophosphatemic (XLH) rickets is a rare hereditary metabolic disorder with a prevalence of 1 in 20,000 and causes deficient calcification of mineralized structures such as bones and teeth resulting in dental problems in terms of delayed eruption, spontaneous periap

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Kumar, Sandeep, Ravikumar Shah, Virendra Patil, et al. "Tumor-induced rickets-osteomalacia: an enigma." Journal of Pediatric Endocrinology and Metabolism 33, no. 8 (2020): 1097–103. http://dx.doi.org/10.1515/jpem-2020-0079.

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AbstractObjectivesWe report a case of pediatric thoracic tumor-induced osteomalacia (TIO) causing severe hypophosphatemic rickets with delayed diagnosis and emphasize on timely management of this rare entity.Case presentationA young boy presented with rickets since five years of age. Biochemical evaluation revealed hypophosphatemia, hyperphosphaturia, elevated alkaline phosphatase and normal calcium levels. Initially managed as hereditary hypophosphatemic rickets, he was given phosphorus supplements and calcitriol. Despite the therapy, skeletal deformities worsened requiring surgical correctio

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Alnajashi, Ibrahim, Wejdan Alshehri, and Noor Shihabi. "The Efficacy of Burosumab Treatment for Hypophosphatemic Rickets: Systematic Review." Asian Journal of Medicine and Health 21, no. 12 (2023): 101–12. http://dx.doi.org/10.9734/ajmah/2023/v21i12965.

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Background/Objective: The approval of burosumab for the treatment of X-linked hypophosphatemia (XLH) in adults and children is a significant milestone. Nevertheless, there is a scarcity of data regarding its safety and efficacy in adolescents. The primary objective of this research is to assess the safety and effectiveness of burosumab in the treatment of hypophosphatemia rickets in adolescents. Methods: An extensive and comprehensive search was carried out primarily utilizing the PubMed database, in accordance with the PRISMA criteria. The search parameters were confined to studies cond

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Alsaffar, Hussain, Hajar Dauleh, and Khadija Ali. "X-Linked Hypophosphatemia at the European Society of Pediatric Endocrinology Meeting 2022." Journal of Diabetes and Endocrine Practice 06, no. 02 (2023): 068–70. http://dx.doi.org/10.1055/s-0043-1768977.

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AbstractRickets, a growth plate disorder, is classified into calcipenic and phosphopenic types based on the etiology. Phosphopenic rickets can be further classified into fibroblast growth factor 23 (FGF23) mediated and non-FGF23 mediated. FGF-23 has a phosphaturic effect which results in hypophosphatemia and, therefore, the accumulation of hypertrophied chondrocytes, leading to rachitic changes in the bones. One of the most common causes of inherited hypophosphatemic rickets is X-linked hypophosphatemia (XLH), mainly due to a mutation in the PHEX gene that ends in the extended release of FGF-2

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Nakanishi, Tatsuro, and Toshimi Michigami. "Pathogenesis of FGF23-Related Hypophosphatemic Diseases Including X-linked Hypophosphatemia." Endocrines 3, no. 2 (2022): 303–16. http://dx.doi.org/10.3390/endocrines3020025.

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Анотація:

Since phosphate is indispensable for skeletal mineralization, chronic hypophosphatemia causes rickets and osteomalacia. Fibroblast growth factor 23 (FGF23), which is mainly produced by osteocytes in bone, functions as the central regulator of phosphate metabolism by increasing the renal excretion of phosphate and suppressing the production of 1,25-dihydroxyvitamin D. The excessive action of FGF23 results in hypophosphatemic diseases, which include a number of genetic disorders such as X-linked hypophosphatemic rickets (XLH) and tumor-induced osteomalacia (TIO). Phosphate-regulating gene homolo

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Borghi, Mauro M. S., Veronica Coates, and Hatim A. Omar. "Evaluation of Stature Development During Childhood and Adolescence in Individuals with Familial Hypophosphatemic Rickets." Scientific World JOURNAL 5 (2005): 868–73. http://dx.doi.org/10.1100/tsw.2005.102.

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This review was conducted to study the diagnosis, treatment, and growth progression in infants and adolescents with familial hypophosphatemic rickets. The bibliographic search was carried out utilizing the electronic databases MEDLINE, OVID, and LILACS and by direct research within the last 15 years using the keywords rickets, familial hypophosphatemia, vitamin D deficiency, stature growth, childhood, and adolescence. Article selection was done by comparing the evaluation of the growth in patients with familial hypophosphatemic rickets, including the variables that might affect them, for possi

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Menezes Filho, Hamilton de, Luiz Claudio G. de Castro, and Durval Damiani. "Hypophosphatemic rickets and osteomalacia." Arquivos Brasileiros de Endocrinologia & Metabologia 50, no. 4 (2006): 802–13. http://dx.doi.org/10.1590/s0004-27302006000400025.

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The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or rickets in children and osteomalacia in adults. X-linked hypophosphatemic rickets, autosomal-dominant hypophosphatemic rickets, and tumor-induced osteomalacia are the main syndromes involved in the hypop

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Kartamysheva, N. N., T. V. Vashurina, O. I. Zrobok, et al. "HYPOPHOSPHATEMIC RICKETS." Pediatric pharmacology 10, no. 4 (2013): 122. http://dx.doi.org/10.15690/pf.v10i4.763.

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Більше джерел

Дисертації з теми "Hypophosphatemic Rickets"

Ribeiro, Thyciana Rodrigues. "Familial hypophosphatemic rickets: study about salivary peptides and dental mineral structure." Universidade Federal do CearÃ, 2013. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=9939.

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FundaÃÃo Cearense de Apoio ao Desenvolvimento Cientifico e TecnolÃgico<br>X-linked hypophosphatemic rickets (XLHR) is the most common cause of heritable rickets, with an incidence of 1:20,000 live births, representing more than 80% of familial hypophosphatemic rickets. Saliva is the most easily available and accessible body fluid, which makes it one of the most sought after tools in diagnostic pathology. In this context, this thesis, constituted by 4 articles aimed to: (1) describe the main systemic manifestations, oral findings and dental management in 3 generations of an affected family; (2)

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Jones, Andrew Owain. "Genetic variation at the NPT2 locus : implications for hereditary hypophosphatemic rickets with hypercalciuria and osteoporosis." Thesis, McGill University, 2000. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=30843.

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Recognising that NPT2 is the major Na/Pi cotransporter in the kidney, that hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is caused by a renal Pi leak and, that Npt2 knockout mice demonstrate a biochemical phenotype similar to that of patients with HHRH, we sought to determine whether NPT2 was a candidate gene for this disorder. Using single-strand conformation polymorphsim (SSCP) analysis and sequencing in six unrelated pedigrees with the disease, we found no disease-causing mutations. Two polymorphisms were identified in the gene and used as markers to examine segregation of

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Benet-Pagès, Anna. "Characterization of native FGF23 protein and mutant forms causing autosomal dominant hypophosphatemic rickets and familial tumoral calcinosis." Diss., lmu, 2006. http://nbn-resolving.de/urn:nbn:de:bvb:19-49884.

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Larsson, Tobias Erik Martin. "The Role of Fibroblast Growth Factor 23 in Phosphate Homeostasis." Doctoral thesis, Uppsala : Acta Universitatis Upsaliensis : Univ.-bibl. [distributör], 2004. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4489.

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Neto, Guido de Paula Colares. "Raquitismo e osteomalácia hipofosfatêmicos de origem genética mediados por FGF23: caracterização molecular, óssea e renal." Universidade de São Paulo, 2015. http://www.teses.usp.br/teses/disponiveis/5/5135/tde-11012016-152154/.

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Introdução: raquitismo e osteomalácia hipofosfatêmicos de origem genética mediados por FGF23 (RQ/OM-FGF23) são caracterizados pelo aumento patológico dos níveis séricos de FGF23 com consequentes hiperfosfatúria e hipofosfatemia. A forma hereditária mais comum é a ligada ao X dominante (XLHR) ocasionada por mutações inativadoras no gene PHEX. Objetivos: identificar a etiologia molecular; avaliar a densidade mineral óssea (DMO) e a microarquitetura óssea e, determinar a prevalência de nefrocalcinose (NC), nefrolitíase (NL) e de alterações metabólicas urinárias em 47 pacientes com RQ/OM-FGF23 (16

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Benet, Pagès Anna [Verfasser]. "Characterization of native FGF23 protein and mutant forms causing autosomal dominant hypophosphatemic rickets and familial tumoral calcinosis / vorgelegt von Anna Benet Pagès." 2005. http://d-nb.info/97918276X/34.

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Книги з теми "Hypophosphatemic Rickets"

Kulikova, Kristina, and Anatoliy Tyul'pakov. Diagnosis and management of X-linked dominant hypophosphatemic rickets. Triumph Publishing, 2023. http://dx.doi.org/10.29039/978-5-94472-158-7-10-2023.

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Hollak, Carla E. M. Skeletal Abnormalities. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0072.

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Анотація:

The skeleton is frequently involved in inborn error of metabolism as part of a chronic, multisystem disease. Several disorders in adulthood may present with skeletal symptoms as a first sign of an underlying metabolic disease. Examples are Gaucher disease, alkaptonuria, hypofosfatasia or hereditary hypophosphatemic rickets. In addition, secondary skeletal problems, specifically osteoporosis, is a frequent complication of a wide range of inborn errors of metabolism. The presence of additional symptoms, specific radiographical appearance and/or biochemical abnormalities can assist in making the

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Частини книг з теми "Hypophosphatemic Rickets"

Drezner, M. K. "Hypophosphatemic Rickets." In Vitamin D and Rickets. KARGER, 2003. http://dx.doi.org/10.1159/000072774.

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Metze, Dieter, Vanessa F. Cury, Ricardo S. Gomez, et al. "Hypophosphatemic Rickets." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6504.

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Chan, James C. M., and Uri Alon. "Renal Hypophosphatemic Rickets." In Homeostasis, Nephrotoxicity, and Renal Anomalies in the Newborn. Springer US, 1986. http://dx.doi.org/10.1007/978-1-4613-2637-3_16.

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Clarke, Bart L. "Phosphorus Disorders: Hypophosphatemic Rickets." In Metabolic Bone Diseases. Springer International Publishing, 2019. http://dx.doi.org/10.1007/978-3-030-03694-2_7.

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Bartholdi, Deborah, Albert Schinzel, Deborah Bartholdi, et al. "X-linked Hypophosphatemic Rickets." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6498.

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Scharnagl, Hubert, Winfried März, Markus Böhm, et al. "Autosomal Dominant Hypophosphatemic Rickets." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_6500.

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Bien, Christian G., Christian E. Elger, Ali R. Afzal, et al. "Rickets, Autosomal Dominant Hypophosphatemic." In Encyclopedia of Molecular Mechanisms of Disease. Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_904.

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Econs, Michael J., and Tim M. Strom. "The Molecular Basis of Hypophosphatemic Rickets." In Molecular and Cellular Pediatric Endocrinology. Humana Press, 1999. http://dx.doi.org/10.1007/978-1-59259-697-3_4.

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Schumacher, Marius, and Olaf Hiort. "Longitudinal Growth in X-linked Hypophosphatemic Rickets." In Handbook of Growth and Growth Monitoring in Health and Disease. Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-1795-9_132.

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Popkov, Dimitri. "Use of FIN for Correction of Deformities in Children with Familial Hypophosphatemic Rickets." In Flexible Intramedullary Nailing in Children. Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-03031-4_23.

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Тези доповідей конференцій з теми "Hypophosphatemic Rickets"

MUKHANALIEVA, A. A., L. V. ALEKSEYUK, and A. S. POKUSAEVA. "HYPOPHOSPHATEMIC RICKETS IN ANIMALS." In ОСНОВНЫЕ ВОПРОСЫ ЛИНГВИСТИКИ, ЛИНГВОДИДАКТИКИ И МЕЖКУЛЬТУРНОЙ КОММУНИКАЦИИ. Федеральное государственное бюджетное образовательное учреждение высшего профессионального образования "Астраханский государственный университет", 2019. http://dx.doi.org/10.21672/978-5-9926-1141-0-2019-76-79.

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Fogaça, Guilherme Henrique Silva, Lais Yurie Facimot, Amanda Alves Volse, et al. "X-LINKED HYPOPHOSPHATEMIC RICKETS IN AN ADULT: A CASE REPORT." In XL Congresso Brasileiro de Reumatologia. Sociedade Brasileiro de Reumatologia, 2023. http://dx.doi.org/10.47660/cbr.2023.1862.

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Delai, Milena, Mateus Krahl, Andressa Miozzo Soares, et al. "HYPOPHOSPHATEMIC RICKETS MIMICKING ANKYLOSING SPONDYLITIS: AN ALERT FOR DIFFERENTIAL DIAGNOSIS CASE REPORT." In XL Congresso Brasileiro de Reumatologia. Sociedade Brasileiro de Reumatologia, 2023. http://dx.doi.org/10.47660/cbr.2023.1952.

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Авдеева, Елизавета Сергеевна, Екатерина Владимировна Солопова, and Ирина Валерьевна Гребенникова. "CLINICAL AND PATHOPHYSIOLOGICAL FEATURES OF TUBULOPATHY IN CHILDREN." In Тенденции развития современной науки в свете исследований молодых ученых: сборник статей международной научной конференции (Вологда, Ноябрь 2023). Crossref, 2024. http://dx.doi.org/10.37539/231129.2023.99.25.005.

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Тубулопатии - болезни почечных канальцев, которые характеризуются нарушениями тубулярного транспорта электролитов, воды, минеральных и органических веществ. В статье рассмотрены этиология, патогенез, клинические проявления и частота встречаемости таких тубулопатий, как Х-сцепленный доминантный гипофосфатемический рахит, синдром Барттера и врожденный нефрогенный несахарный диабет. Tubulopathies are diseases of the renal tubules, which are characterized by disturbances in the tubular transport of electrolytes, water, minerals and organic substances. The article discusses the etiology, pathogenes

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Portale, Anthony A., Eric Imel, Annemieke Boot, et al. "Effect of krn23, a Fully Human anti-fgf23 Monoclonal Antibody, on Rickets in Children with X-linked Hypophosphatemia (xlh): 40-week Interim Results from a Randomized, Open-label Phase 2 Study." In Selection of Abstracts From NCE 2016. American Academy of Pediatrics, 2018. http://dx.doi.org/10.1542/peds.141.1_meetingabstract.264.

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