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901por Pilz, Stefan, März, Winfried, Cashman, Kevin D., Kiely, Mairead E., Whiting, Susan J., Holick, Michael F., Grant, William B., Pludowski, Pawel, Hiligsmann, Mickael, Trummer, Christian, Schwetz, Verena, Lerchbaum, Elisabeth, Pandis, Marlene, Tomaschitz, Andreas, Grübler, Martin R., Gaksch, Martin, Verheyen, Nicolas, Hollis, Bruce W., Rejnmark, Lars, Karras, Spyridon N., Hahn, Andreas, Bischoff-Ferrari, Heike A., Reichrath, Jörg, Jorde, Rolf, Elmadfa, Ibrahim, Vieth, Reinhold, Scragg, Robert, Calvo, Mona S., van Schoor, Natasja M., Bouillon, Roger, Lips, Paul, Itkonen, Suvi T., Martineau, Adrian R., Lamberg-Allardt, Christel, Zittermann, Armin“…Vitamin D deficiency can lead to musculoskeletal diseases such as rickets and osteomalacia, but vitamin D supplementation may also prevent extraskeletal diseases such as respiratory tract infections, asthma exacerbations, pregnancy complications and premature deaths. …”
Publicado 2018
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902por Dharmaraj, Poonam, Burren, Christine, Cheung, Moira, Padidela, Raja, Mughal, Zulf, Shaw, Nick, Saraff, Vrinda, Nadar, Ruchi, Randell, Tabitha, Mushtaq, Talat, Ramakrishnan, Renuka, Sennipathan, Senthil, Sakka, Sophia, Bath, Louise, Elleri, Daniela, Davies, Justin, Tucker, Ian, Arundel, Paul, Gilbey-Cross, Robyn, Tothill, Alexander, Connor, Paul, Mathieson, Leigh“…Objectives X-linked hypophosphatemia (XLH) is a rare inherited form of osteomalacia characterised by low blood phosphate levels which lead to inadequate mineralization of bone:rickets leading in turn to a spectrum of skeletal abnormalities, physical impairment, weakness, and pain. …”
Publicado 2019
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903por O'Callaghan, Karen M, Hennessy, Áine, Hull, George L J, Healy, Karina, Ritz, Christian, Kenny, Louise C, Cashman, Kevin D, Kiely, Mairead E“…OBJECTIVE: The aim was to estimate vitamin D intake needed to maintain maternal 25-hydroxyvitamin D [25(OH)D] in late gestation at a concentration sufficient to prevent newborn 25(OH)D <25–30 nmol/L, a threshold indicative of increased risk of nutritional rickets. DESIGN: We conducted a 3-arm, dose-response, double-blind, randomized placebo-controlled trial in Cork, Ireland (51.9(o)N). …”
Publicado 2018
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904“….*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype X-linked hypophosphatemia (XLH) is an inherited form of hypophosphatemia that is part of a group of disorders that leads to impaired bone mineralization, which can manifest as rickets in children and osteomalacia in adults. Mutations in PHEX, DMP1, ENPP1, and activating mutations in FGF23 have each been shown as genetic causes for XLH. …”
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905por Li, Xin, Yu, Jiaxiao, Wen, Li, Li, Qingshu, Yan, Jianying, Tian, Jing, Tong, Chao, Tong, Qi, Qi, Hongbo, Saffery, Richard, Kilby, Mark D., Baker, Philip N.“…BACKGROUND: Vitamin D deficiency is a global public health issue in women and children and is associated with adverse impacts on child growth, such as rickets. However, prior studies have mainly focused on measuring vitamin D levels in singleton pregnant women and their offspring, and very limited studies have revealed the prevalence of vitamin D deficiency in twin pregnant women and their offspring. …”
Publicado 2021
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906“…Introduction: Vitamin D deficiency is a worldwide public health concern, which can lead to severe diseases, such as rickets in children and osteomalacia in adults. Most studies have compared equimolar unit-to-unit doses of vitamin D2 and D3. …”
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907por Ertl, Diana-Alexandra, Le Lorier, Justin, Gleiss, Andreas, Trabado, Séverine, Bensignor, Candace, Audrain, Christelle, Zhukouskaya, Volha, Coutant, Régis, Berkenou, Jugurtha, Rothenbuhler, Anya, Haeusler, Gabriele, Linglart, Agnès“…BACKGROUND: X-linked hypophosphatemia (XLH) is characterized by increased serum concentrations of fibroblast growth factor 23 (FGF23), hypophosphatemia and insufficient endogenous synthesis of calcitriol. Beside rickets, odonto- and osteomalacia, disproportionate short stature is seen in most affected individuals. …”
Publicado 2022
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908por Brazier, François, Courbebaisse, Marie, David, Amandine, Bergerat, David, Leroy, Christine, Lindner, Marta, Maruani, Gérard, Saint Jacques, Camille, Letavernier, Emmanuel, Hureaux, Marguerite, Vargas-Poussou, Rosa, Prié, Dominique“…Biallelic pathogenic variants in the SLC34A3 gene, encoding for the NPT2c cotransporter, cause Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH). However, the associated phenotype is highly variable. …”
Publicado 2023
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909“…BACKGROUND: X linked hypophosphatemia (XLH) is a rare genetic disorder, with an estimated prevalence of 1: 20,000 live births resulting from a mutation in the PHEX gene (phosphate regulatory endopeptidase), which causes increased levels of circulating fibroblast growth factor 23 (FGF23), reducing both renal reabsorption of phosphate and serum levels of 1,25-dihydroxyvitamin D3, causing chronic hypophosphatemia, rickets and osteomalacy. CLINICAL CASE: a 34 year old female with a height of 1.34 meters whose past medical history began at the age of three years old with a diagnosis of short stature, associated with genu varum and low serum phosphate levels. …”
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910“…He had recurrent non-traumatic fractures since his teenage years and he and his sister were diagnosed with childhood rickets. He sustained fractures of both forearms, right ankle, right hip and left femoral neck, and had undergone right hip replacement and left femoral neck internal fixation. …”
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911“…Testing for causal mutations of hypophosphatemic rickets and osteogenesis imperfecta was negative. …”
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912“…X-ray revealed bilateral femoral head fractures and evidence of rickets. He underwent bilateral surgical repair. He was started on IV calcium gluconate initially. …”
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913por Yu, Hao‐nan, Liu, Ling, Chen, Qiu‐song, He, Qing, Li, Yan‐sheng, Wang, Ying, Gao, Shuo“…Among the five non‐TIO patients, there were two cases of Fanconi syndrome, one case of rickets, and two cases of sporadic osteomalacia hypophosphorus. …”
Publicado 2021
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914por Mogire, Reagan M., Morovat, Alireza, Muriuki, John Muthii, Mentzer, Alexander J., Webb, Emily L., Kimita, Wandia, Ndungu, Francis M., Macharia, Alex W., Cutland, Clare L., Sirima, Sodiomon B., Diarra, Amidou, Tiono, Alfred B., Lule, Swaib A., Madhi, Shabir A., Sandhu, Manjinder S., Prentice, Andrew M., Bejon, Philip, Pettifor, John M., Elliott, Alison M., Adeyemo, Adebowale, Williams, Thomas N., Atkinson, Sarah H.“…BACKGROUND: Children living in sub-Saharan Africa have a high burden of rickets and infectious diseases, conditions that are linked to vitamin D deficiency. …”
Publicado 2021
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915por Japalaghi, Omid K, McLaughlin, Heather, Miller, Nicole, Ramesan, Prameela, Rush, Eric, Yong, Jillian, Dahir, Kathryn“…INTRODUCTION: X-linked hypophosphatemia (XLH), a dominant disorder caused by disease-associated variants in the PHEX gene, affects males and females of all ages. Rickets and osteomalacia may be present along with short stature, lower limb deformity, muscle pain and/or weakness/fatigue, bone pain, fractures and poor fracture healing, joint pain/stiffness, hearing difficulty, enthesopathy, osteoarthritis, and dental abscesses. …”
Publicado 2022
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916“…Her mother has a history of “childhood onset rickets”, bowing of legs and complete loss of all her permanent teeth at the age of 30 years. …”
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917“…Deficiency can lead to rickets and has been linked to various infections, including respiratory infections. …”
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918por Saha, Shreya, Woodbine, Lisa, Haines, Jackie, Coster, Margaret, Ricket, Nicole, Barazzuol, Lara, Ainsbury, Elizabeth, Sienkiewicz, Zenon, Jeggo, PennyEnlace del recurso
Publicado 2014
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919por Brown, Courtney M., Dillon, Beth, Toth, Christina, Decker, Emily, Alexander, Robin N., Chandawarkar, Aarti R., Bester, Stefanie, Ricket, Elizabeth, Snyder, Dane A.Enlace del recurso
Publicado 2023
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920por Ricket, Iben M., Matheny, Michael E., MacKenzie, Todd A., Emond, Jennifer A., Ailawadi, Kusum L., Brown, Jeremiah R.Enlace del recurso
Publicado 2023
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