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801por Giustina, Andrea, Bouillon, Roger, Binkley, Neil, Sempos, Christopher, Adler, Robert A, Bollerslev, Jens, Dawson‐Hughes, Bess, Ebeling, Peter R, Feldman, David, Heijboer, Annemieke, Jones, Glenville, Kovacs, Christopher S, Lazaretti‐Castro, Marise, Lips, Paul, Marcocci, Claudio, Minisola, Salvatore, Napoli, Nicola, Rizzoli, Rene, Scragg, Robert, White, John H, Formenti, Anna Maria, Bilezikian, John P“…As will be detailed in this article, consensus was achieved with regard to the following: the importance and prevalence of nutritional rickets, amounts of vitamin D that are typically generated by sun exposure, worldwide prevalence of vitamin D deficiency, the importance of circulating concentrations of 25OHD as the best index of vitamin D stores, definitions and thresholds of vitamin D deficiency, and efficacy of vitamin D analogues in the treatment of psoriasis. …”
Publicado 2020
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802por Laird, Eamon, Walsh, James Bernard, Lanham-New, Susan, O’Sullivan, Maria, Kenny, Rose Anne, Scully, Helena, Crowley, Vivion, Healy, Martin“…Given the importance of vitamin D for health, this sub-population could be at a significantly increased risk of rickets, impaired bone metabolism, and osteoporosis. …”
Publicado 2020
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803por Colazo, Juan M., DeCorte, Joseph A., Gillaspie, Erin A., Folpe, Andrew L., Dahir, Kathryn M.“…In this case report, we present a 41-year-old female with FGF23-mediated hypophosphatemia with a 26-year delay in TIO diagnosis and a concurrent misdiagnosis of X-linked hypophosphatemic rickets (XLH). Given an absence of family history of hypophosphatemia, a 13-gene hypophosphatemia panel including XLH (PHEX gene) was performed and came back negative prompting a diagnostic search for a PMT causing TIO. …”
Publicado 2020
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804por Minisola, Salvatore, Colangelo, Luciano, Pepe, Jessica, Diacinti, Daniele, Cipriani, Cristiana, Rao, Sudhaker D“…Historically, rickets and osteomalacia have been synonymous with vitamin D deficiency dating back to the 17th century. …”
Publicado 2020
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805“…We ruled out additional mutations that lead to hypophosphatemic rickets, including phosphate‐regulating endopeptidase homolog, X‐linked. …”
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806“…Cholecalciferol (vitamin D(3)) is essentially known for its role in the phosphocalcic metabolism and its associated pathologies, such as rickets. In Switzerland, 35 to 50% of children are vitamin D deficient. …”
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807por Bakhamis, Sarah, Imtiaz, Faiqa, Ramzan, Khushnooda, De Vol, Edward, Al-Sagheir, Osamah, Al-Rajhi, Abdulrahman, Alashwal, Abdullah, Bin Abbas, Bassam, Sakati, Nadia, Al-Sagheir, Afaf“…Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. …”
Publicado 2021
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808por Nørgaard, Signe Monrad, Dalgård, Christine, Heidemann, Malene Søborg, Schou, Anders Jørgen, Christesen, Henrik Thybo“…Vitamin D supplementation in infancy is recommended to prevent rickets. At the population level, its effects on bone mineralisation are largely unknown. …”
Publicado 2021
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809“…Inactivating VDR mutations or vitamin D deficiency during development results in rickets, hypocalcemia, secondary hyperparathyroidism, and hypophosphatemia, pointing to the critical role of 1,25(OH)(2)D(3)‐induced signaling in the maintenance of mineral homeostasis and skeletal health. 1,25(OH)(2)D(3) is a potent stimulator of VDR‐mediated intestinal calcium absorption, thus increasing the availability of calcium required for proper bone mineralization. …”
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810por Bernhard, Eva, Nitschke, Yvonne, Khursigara, Gus, Sabbagh, Yves, Wang, Yongbao, Rutsch, Frank“…PURPOSE: Generalized arterial calcification of infancy, pseudoxanthoma elasticum, autosomal recessive hypophosphatemic rickets type 2, and hypophosphatasia are rare inherited disorders associated with altered plasma levels of inorganic pyrophosphate (PP(i)). …”
Publicado 2021
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811por Qi, Jing-Wan, Huang, Bing, Wang, Shuang, Song, Dan, Xu, Jing, Cui, Ying, Guo, Bin“…Clinical caution should be exercised in giving VD2 supplementation to patients with T2DM unless other diseases requiring VD2 supplementation (e.g., rickets, osteoporosis) are present.…”
Publicado 2022
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812por Alonso, Nerea, Larraz‐Prieto, Beatriz, Berg, Kathryn, Lambert, Zoe, Redmond, Paul, Harris, Sarah E, Deary, Ian J, Pugh, Carys, Prendergast, James, Ralston, Stuart H“…Hypophosphatasia (HPP) is a rare inherited disorder characterized by rickets and low circulating concentrations of total alkaline phosphatase (ALP) caused by mutations in ALPL. …”
Publicado 2020
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813“…Nonetheless, the fat-soluble vitamins are now considered a prophylactic measurement for a multitude of diseases such as autism, rickets disease, gestational diabetes, and asthma. …”
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814“…Reduced VDR expression or VDR mutations are the cause of rickets and are thought to contribute to different disorders. …”
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815por Tripathi, Alok, John, Aijaz A., Kumar, Deepak, Kaushal, Saurabh Kumar, Singh, Devendra Pratap, Husain, Nazim, Sarkar, Jayanta, Singh, Divya“…X-linked hypophosphatemia (XLH), an inheritable form of rickets is caused due to mutation in Phex gene. Several factors are linked to the disease’s aetiology, including non-coding RNA molecules (miRNAs), which are key post-transcriptional regulators of gene expression and play a significant role in osteoblast functions. …”
Publicado 2022
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816por Nerlich, Andreas G., Panzer, Stephanie, Wimmer, Judith, Hamann, Christian, Peschel, Oliver K.“…Although incompletely developed, the osteopathology points toward rickets, without upper or lower extremities long bone deformation. …”
Publicado 2022
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817por Mengistu, Girma Teferi, Terefe, Ayana Benti, Gudeta, Tolesa Gemeda, Mengistu, Bizunesh Kefale“…In Ethiopia, one in thirteen children had rickets, which could be prevented by sunlight exposure or supplementation. …”
Publicado 2022
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818por Al-Jaberi, Fatima A. H., Crone, Cornelia Geisler, Lindenstrøm, Thomas, Arildsen, Nicolai Skovbjerg, Lindeløv, Emilia Sæderup, Aagaard, Louise, Gravesen, Eva, Mortensen, Rasmus, Andersen, Aase Bengaard, Olgaard, Klaus, Hjaltelin, Jessica Xin, Brunak, Søren, Bonefeld, Charlotte Menné, Kongsbak-Wismann, Martin, Geisler, Carsten“…We have previously described a family in which members suffer from hereditary vitamin D-resistant rickets (HVDRR). The family carry a mutation in the DNA-binding domain of the vitamin D receptor (VDR). …”
Publicado 2022
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819por Brescia, Vincenzo, Fontana, Antonietta, Lovero, Roberto, Capobianco, Carmela, Marsico, Stella Vita, De Chirico, Tiziana, Pinto, Carla, Varraso, Lucia, Cazzolla, Angela Pia, Di Serio, Francesca“…CONCLUSIONS: The dosage of iFGF23 is important both for the differential diagnosis of the various forms of rickets, and for the subsequent monitoring of the effectiveness of drug treatment. …”
Publicado 2022
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820por Liao, Qian-Qian, Dong, Qing-Qing, Zhang, Hui, Shu, Hua-Pan, Tu, Yu-Chi, Yao, Li-Jun“…These processes are related to kidney stones, hypophosphorous rickets, multiple syndromes, arrhythmia, hypertension, heart failure, epilepsy, Alzheimer’s disease, amyotrophic lateral sclerosis, glaucoma, ataxia idiopathic deafness, and other diseases.…”
Publicado 2022
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