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861por Cadario, Francesco, Savastio, Silvia, Magnani, Corrado, Cena, Tiziana, Pagliardini, Veronica, Bellomo, Giorgio, Bagnati, Marco, Vidali, Matteo, Pozzi, Erica, Pamparana, Stella, Zaffaroni, Mauro, Genoni, Giulia, Bona, Gianni“…Vitamin D deficiency has been associated with an increased risk of rickets in children and osteomalacia in adults. Aim of this study was to investigate 25OHD levels in maternal serum and in neonatal blood spots in native and migrant populations living in Novara (North Italy, 45°N latitude). …”
Publicado 2015
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862por Watanabe, Toru“…Common clinical features of dRTA include vomiting, failure to thrive, polyuria, hypercalciuria, hypocitraturia, nephrocalcinosis, nephrolithiasis, growth delay, and rickets. Mutations in genes encoding three distinct transport proteins in A-ICs have been identified as causes of dRTA, including the B1/ATP6V1B1 and a4/ATP6V0A4 subunits of the vacuolar-type H(+)-ATPase (H(+)-ATPase) and the chloride–bicarbonate exchanger AE1/SLC4A1. …”
Publicado 2018
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863por Cheong, Hae Il, Yoo, Han‐Wook, Adachi, Masanori, Tanaka, Hiroyuki, Fujiwara, Ikuma, Hasegawa, Yukihiro, Harada, Daisuke, Sugimoto, Maiko, Okada, Yosuke, Kato, Masaki, Shimazaki, Ryutaro, Ozono, Keiichi, Seino, Yoshiki“…X‐linked hypophosphatemia (XLH) is a disease caused by abnormally elevated FGF23 levels, which cause persistent hypophosphatemia accompanied by subsequent reduction in bone mineralization that presents as rickets or osteomalacia. Burosumab is a fully human monoclonal antibody targeting FGF23 that is under development for the treatment of FGF23‐related hypophosphatemia including XLH. …”
Publicado 2018
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864por Fukushima, Kazunori, Kawai-Kowase, Keiko, Yonemoto, Yukio, Fujiwara, Makoto, Sato, Hiroko, Sato, Mahito, Kubota, Takuo, Ozono, Keiichi, Tamura, Junich“…She had mild muscle/bone pain but no history of rickets, fractures, or dental problems. Measurement of bone mineral density of the lumbar spine and the femoral neck revealed osteopenia below the expected range for age in a young adult. …”
Publicado 2019
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865por Grundmann, Sarah M., Schutkowski, Alexandra, Schreier, Barbara, Rabe, Sindy, König, Bettina, Gekle, Michael, Stangl, Gabriele I.“…Group 1 comprised Vdr(–/–) mice that received a high-calcium, high-phosphorus rescue diet to prevent hypocalcemia and a rickets phenotype. Groups 2 and 3 included Vdr(+/+) mice that were fed either the rescue diet or a control diet containing normal amounts of these minerals. …”
Publicado 2019
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866por Mameli, Chiara, Zichichi, Giulia, Mahmood, Nasim, Elalaoui, Siham Chafai, Mirza, Adnan, Dharmaraj, Poonam, Burrone, Marco, Cattaneo, Elisa, Sheth, Jayesh, Gandhi, Ajit, Kochar, Gurpreet Singh, Alkuraya, Fowzan Sami, Kabra, Madhulika, Mercurio, Giuseppe, Zuccotti, Gianvincenzo“…Persistent hypophosphatemic rickets was the most striking endocrinological manifestation, which was scarcely responsive to therapy with phosphate salts and alfacalcidol. …”
Publicado 2020
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867por Padidela, Raja, Nilsson, Ola, Makitie, Outi, Beck-Nielsen, Signe, Ariceta, Gema, Schnabel, Dirk, Brandi, Maria Luisa, Boot, Annemieke, Levtchenko, Elena, Smyth, Michael, Jandhyala, Ravi, Mughal, Zulf“…This results in impaired bone growth and mineralisation, short and disproportionate stature, leg bowing, musculoskeletal pain, spontaneous dental abscesses, rickets, and osteomalacia. The spectrum of manifestations differs between paediatric and adult patients. …”
Publicado 2020
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868por Musa, Salwa A., Ibrahim, Areej A., Hassan, Samar S., Johnson, Matthew B, Basheer, Asmahan T., Arabi, Ali M., Abdullah, Mohamed A.“…Severe chest deformity was present in (27%) and all patients showed features of rickets at presentation. Three patients had neonatal diabetes requiring insulin therapy of which one has been reported before. …”
Publicado 2020
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869por Imanishi, Yasuo, Ito, Nobuaki, Rhee, Yumie, Takeuchi, Yasuhiro, Shin, Chan Soo, Takahashi, Yutaka, Onuma, Hiroki, Kojima, Masahiro, Kanematsu, Masanori, Kanda, Hironori, Seino, Yoshiki, Fukumoto, Seiji“…Patients with tumor‐induced osteomalacia (TIO), an acquired paraneoplastic condition characterized by osteomalacia due to hypophosphatemia, exhibit a similar clinical picture to those with X‐linked hypophosphatemic rickets/osteomalacia (XLH). The human monoclonal anti‐fibroblast growth factor 23 (FGF23) antibody burosumab (KRN23) increases serum phosphate and improves bone turnover, fracture healing, pain, and physical function in XLH patients by inhibiting circulating FGF23; thus, burosumab is expected to be an effective treatment for TIO. …”
Publicado 2020
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870por Kinoshita, Yuka, Mohamed, Fatma F, Amadeu de Oliveira, Flavia, Narisawa, Sonoko, Miyake, Koichi, Foster, Brian L, Millán, José Luis“…Treated Alpl (−/−) mice did not show signs of rickets, including bowing of long bones, enlargement of epiphyses, or fractures. …”
Publicado 2021
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871por Glorieux, Francis H., Bonewald, Lynda F., Harvey, Nicholas C., van der Meulen, Marjolein C. H.“…The resultant chronic hypophosphatemia leads to progressive deterioration in musculoskeletal function, including impaired growth, rickets, and limb deformities in children, as well as lifelong osteomalacia with reduced bone quality and impaired muscle structure and function. …”
Publicado 2022
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872por Velazquez-Navarro, Jassel A, Loya-Teruel, Edgar, Rios-Gomez, Mariana, Montes-Ramirez, Juan E“…Hypophosphatemia due to renal losses in an adult patient is a challenging diagnosis and one must consider TIO, autosomal dominant hypophosphatemic rickets, fibrous dysplasia, and even Fanconi syndrome. …”
Publicado 2022
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873“…BACKGROUND: Vitamin D deficiency affects 7–86% of infants globally and results in recurrent infections, impaired growth and nutritional rickets. Low-birth-weight infants in Uganda are at risk of vitamin D deficiency due to limited sunlight exposure and dependence on breastmilk. …”
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874por Müller, Sophia, Kluck, Rika, Jagodzinski, Celina, Brügelmann, Malina, Hohenfellner, Katharina, Büscher, Anja, Kemper, Markus J., Fröde, Kerstin, Oh, Jun, Billing, Heiko, Thumfart, Julia, Weber, Lutz T., Acham-Roschitz, Birgit, Arbeiter, Klaus, Tönshoff, Burkhard, Hagenberg, Martina, Pavičić, Leo, Haffner, Dieter, Zivicnjak, Miroslav“…BACKGROUND: Infantile nephropathic cystinosis (INC) is a systemic lysosomal storage disease causing intracellular cystine accumulation, resulting in renal Fanconi syndrome, progressive kidney disease (CKD), rickets, malnutrition, and myopathy. An INC-specific disproportionately diminished trunk length compared to leg length poses questions regarding the functionality of the trunk. …”
Publicado 2023
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875por Ahn, Jiyoung, Yu, Kai, Stolzenberg-Solomon, Rachael, Simon, K. Claire, McCullough, Marjorie L., Gallicchio, Lisa, Jacobs, Eric J., Ascherio, Alberto, Helzlsouer, Kathy, Jacobs, Kevin B., Li, Qizhai, Weinstein, Stephanie J., Purdue, Mark, Virtamo, Jarmo, Horst, Ronald, Wheeler, William, Chanock, Stephen, Hunter, David J., Hayes, Richard B., Kraft, Peter, Albanes, Demetrius“…The primary circulating form of vitamin D, 25-hydroxy-vitamin D [25(OH)D], is associated with multiple medical outcomes, including rickets, osteoporosis, multiple sclerosis and cancer. …”
Publicado 2010
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876“…Maternal vitamin D deficiency has been linked to pregnancy complications, as well as hypocalcaemia and rickets in the newborn. Here, the authors report third-trimester maternal and newborn-serum 25OHD concentrations in 101 neonates whose serum samples were sent for testing. …”
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877por Santos, Betânia R, Mascarenhas, Luis P G, Satler, Fabíola, Boguszewski, Margaret C S, Spritzer, Poli Mara“…BACKGROUND: Vitamin D deficiency has been associated with a multitude of disorders including diabetes, defective insulin secretion as well as rickets and poor bone health. Vitamin D is also a concern during childhood and adolescence and has been reported in girls from South Brazil. …”
Publicado 2012
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878por Soliman, Ashraf, Salama, Husam, Alomar, Sufwan, Shatla, Emad, Ellithy, Khaled, Bedair, Elsaid“…DISCUSSION: Newborns with VDD had significantly lower serum calcium, ALP and PTH and higher phosphate concentrations, compared to older infants with VDD rickets. In newborns with VDD, serum calcium levels were correlated significantly with 25OHD (r = 0.597, P < 0.001), Mg concentrations (r = 0.436, P < 0.001) and negatively with ALP concentrations (r = −0.451, P < 0.001). …”
Publicado 2013
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879“…BACKGROUND: Vitamin D (vitD) deficiency is linked to many disease states including rickets and cancer, and vitD supplementation to improve response to cancer therapy has been explored. …”
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880por Ganmaa, Davaasambuu, Stuart, Jennifer J., Sumberzul, Nyamjav, Ninjin, Boldbaatar, Giovannucci, Edward, Kleinman, Ken, Holick, Michael F., Willett, Walter C., Frazier, Lindsay A., Rich-Edwards, Janet W.“…DESIGN: We conducted two randomized, double-blind, placebo-controlled trials in urban school age children without clinical signs of rickets. The Supplementation Study was a 6-month intervention with an 800 IU vitamin D(3) supplement daily, compared with placebo, in 113 children aged 12–15 years. …”
Publicado 2017
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