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821por Vičič, Vid, Mikuš, Ruža Pandel, Kugler, Saša, Geršak, Ksenija, Osredkar, Joško, Kukec, Andreja“…INTRODUCTION: For almost nine decades, the fortification of foods with vitamin D has been proven effective in preventing rickets. This study aims to build and economically evaluate a fortification model based on egg biofortification and milk (including yoghurt) fortification. …”
Publicado 2023
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822por Kim, Insung, Noh, Eu-Seon, Kim, Min-Sun, Jang, Ja-Hyun, Jeon, Tae Yeon, Choi, Hae Won, Cho, Sung Yoon“…The second patient showed no evidence of rickets after 3 years of ERT. Mechanical respiratory support and supplemental oxygen were not required after 4.5 years of treatment in the first patient and at 2 months after treatment in the second patient. …”
Publicado 2023
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823por Panchapakesan, Kailash, Roper, Brennan, Mowrey, Kate, Hillman, Paul, Younas, Shiraz“…Metaphyseal dysplasia, Spahr type (MDST) [MIM: 250400] is a rare primary bone dysplasia that was first clinically described in 1961 in four of five siblings with moderate short stature, metaphyseal dysplasia, mild genu vara, and no biochemical signs of rickets. For many decades, MDST was a clinical diagnosis, but the underlying genetic etiology was determined to be due to biallelic pathogenic variants in matrix metalloproteinases 13 [MIM: 600108] in 2014. …”
Publicado 2022
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824por Zurynski, Yvonne, Munns, Craig Frank, Sezgin, Gorkem, Imai, Chisato, Georgiou, Andrew“…Current Australian policy and the Global Consensus Recommendations for the prevention and management of nutritional rickets do not support routine 25OHD testing. Education and electronic pathology ordering tools may assist GPs to better align practice with current recommendations.…”
Publicado 2023
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825por Kim, Kyoung Jin, Song, Ji Eun, Kim, Ji Hyun, Hong, Namki, Kim, Sin Gon, Lee, Juneyoung, Rhee, Yumie“…BACKGROUND: Chronic idiopathic hypophosphatemia (CIH) induced by X-linked hypophosphatemic rickets or tumor-induced osteomalacia is a rare inherited or acquired disorder. …”
Publicado 2023
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826por Olszewski, Judyta, Hall, Rachael A., Kootker, Lisette M., Oldham, Neil J., Layfield, Robert, Shaw, Barry, Derksen, Leon, Manders, Martijn, Hart, Tim, Schrader, Sarah A.“…Osteological analyses presented evidence of residual rickets, a healed trauma, dental pathological conditions, and pipe notches. …”
Publicado 2023
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827por Pappenheimer, Alwin M.“…Disturbances in ossification, which macroscopically and microscopically were identical with those of human rickets, developed also in the ribs and long bones. …”
Publicado 1914
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828“…Differential diagnoses include hypocalcified forms of amelogenesis imperfecta, congenital erythropoietic porphyria, conditions leading to early tooth loss (Kostmann's disease, cyclic neutropenia, Chediak-Hegashi syndrome, histiocytosis X, Papillon-Lefevre syndrome), permanent teeth discolouration due to tetracyclines, Vitamin D-dependent and vitamin D-resistant rickets. Treatment involves removal of sources of infection or pain, improvement of aesthetics and protection of the posterior teeth from wear. …”
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829por Khor, Geok L, Chee, Winnie SS, Shariff, Zalilah M, Poh, Bee K, Arumugam, Mohan, Rahman, Jamalludin A, Theobald, Hannah E“…There is increasing evidence of vitamin D deficiency world-wide resulting in nutritional rickets in children and osteoporosis in adulthood. …”
Publicado 2011
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830por Shalhoub, V., Ward, S. C., Sun, B., Stevens, J., Renshaw, L., Hawkins, N., Richards, W. G.“…These diseases are associated with rickets and renal osteodystrophy, respectively. FGF23 is secreted from osteoblastic cells and signals through FGFRs, membrane coreceptor alpha-Klotho (Klotho), and, possibly, a circulating form of Klotho. …”
Publicado 2011
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831por Al-Elq, Abdulmohsen H.“…The deficiency of vitamin D can lead to rickets in children and osteomalacia in adults. Few studies have been done to evaluate the status of vitamin D in the medical community. …”
Publicado 2012
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832por Rangiani, Afsaneh, Cao, Zheng-Guo, Liu, Ying, Voisey Rodgers, Anika, Jiang, Yong, Qin, Chun-Lin, Feng, Jian-Quan“…Deletion or mutation of dentin matrix protein 1 (DMP1) leads to hypophosphatemic rickets and defects within the dentin. However, it is largely unknown if this pathological change is a direct role of DMP1 or an indirect role of phosphate (Pi) or both. …”
Publicado 2012
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833por Deng, Xinqing, Song, Yiqing, Manson, JoAnn E, Signorello, Lisa B, Zhang, Shumin M, Shrubsole, Martha J, Ness, Reid M, Seidner, Douglas L, Dai, Qi“…BACKGROUND: Magnesium plays an essential role in the synthesis and metabolism of vitamin D and magnesium supplementation substantially reversed the resistance to vitamin D treatment in patients with magnesium-dependent vitamin-D-resistant rickets. We hypothesized that dietary magnesium alone, particularly its interaction with vitamin D intake, contributes to serum 25-hydroxyvitamin D (25(OH)D) levels, and the associations between serum 25(OH)D and risk of mortality may be modified by magnesium intake level. …”
Publicado 2013
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834The effects of maternal iron deficiency on infant fibroblast growth factor-23 and mineral metabolism“…Whether or not children who are born to iron deficient mothers have persistently high concentrations of these metabolites and are more likely to be at risk of impaired bone development and pre-disposed to rickets requires further research.…”
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835por Zhang, Xiaoping, Imel, Erik A., Ruppe, Mary D., Weber, Thomas J., Klausner, Mark A., Ito, Takahiro, Vergeire, Maria, Humphrey, Jeffrey, Glorieux, Francis H., Portale, Anthony A., Insogna, Karl, Carpenter, Thomas O., Peacock, Munro“…In X‐linked hypophosphatemia (XLH), serum fibroblast growth factor 23 (FGF23) is increased and results in reduced renal maximum threshold for phosphate reabsorption (TmP), reduced serum inorganic phosphorus (Pi), and inappropriately low normal serum 1,25 dihydroxyvitamin D (1,25[OH](2)D) concentration, with subsequent development of rickets or osteomalacia. KRN23 is a recombinant human IgG1 monoclonal antibody that binds to FGF23 and blocks its activity. …”
Publicado 2015
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836“…Patients with hypophosphatemia rickets (including DMP1 mutations) develop severe osteoarthritis (OA), although the mechanism is largely unknown. …”
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837“…Hypophosphatasia with onset in infants and children can manifest as rickets. How TNAP deficiency leads to bone hypomineralization is well explained by TNAP's primary function of pyrophosphate hydrolysis when expressed in differentiated bone forming cells. …”
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838por Helve, Otto, Viljakainen, Heli, Holmlund-Suila, Elisa, Rosendahl, Jenni, Hauta-alus, Helena, Enlund-Cerullo, Maria, Valkama, Saara, Heinonen, Kati, Räikkönen, Katri, Hytinantti, Timo, Mäkitie, Outi, Andersson, Sture“…Many countries apply vitamin D supplementation strategies in infants, but the guidelines are not based on scientific evidence and aim at prevention of rickets. It remains unclear whether the recommended doses are sufficient for the wide array of other effects of vitamin D. …”
Publicado 2017
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839por Arambewela, Maulee Hiromi, Liyanarachchi, Kamani Danushka, Somasundaram, Noel P., Pallewatte, Aruna S., Punchihewa, Gamini L.“…There were no radiological manifestations of rickets. Metabolic profile revealed hypercalcemia with hypophosphatemia. …”
Publicado 2017
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840“…BACKGROUND: Studies of vitamin D (VD) physiology suggest that effects of vitamin D deficiency (VDD) could be much broader than rickets including cardiovascular disease, cancers, diabetes, infection, and allergy and pregnancy complications. …”
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