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481“…X-linked dominant hypophosphatemic rickets (XLHR) was confirmed in 21 children from 13 families. …”
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482por Orimo, Hideo“…Patients with a mild form of the disease exhibit rickets or osteomalacia and a functional defect of exercise. …”
Publicado 2016
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483“…Phosphate is essential for skeletal mineralization, and its chronic deficiency leads to rickets and osteomalacia. Skeletal mineralization starts in matrix vesicles (MVs) derived from the plasma membrane of osteoblasts and chondrocytes. …”
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484por Veselka, Barbara, Brickley, Megan B., D'Ortenzio, Lori, Kahlon, Bonnie, Hoogland, Menno L. P., Waters‐Rist, Andrea L.“…MATERIALS AND METHODS: Beemster and Hattem, two Dutch 17th–19th century communities, yielded relatively high prevalences of rickets (15–24%) and residual rickets (15–24%). From the affected individuals, a subsample of 20 teeth were selected for micro‐CT scanning. …”
Publicado 2019
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485por Ferreira, Carlos R., Hackbarth, Mary E., Ziegler, Shira G., Pan, Kristen S., Roberts, Mary S., Rosing, Douglas R., Whelpley, Margaret S., Bryant, Joy C., Macnamara, Ellen F., Wang, Sisi, Müller, Kerstin, Hartley, Iris R., Chew, Emily Y., Corden, Timothy E., Jacobsen, Christina M., Holm, Ingrid A., Rutsch, Frank, Dikoglu, Esra, Chen, Marcus Y., Mughal, M. Zulf, Levine, Michael A., Gafni, Rachel I., Gahl, William A.“…The relationships among decreased ENPP1, increased iFGF23, and rickets could inform future therapies.…”
Publicado 2020
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486por Wang, Ke, Ren, Yinshi, Lin, Shuxian, Jing, Yan, Ma, Chi, Wang, Jun, Yuan, X. Baozhi, Han, Xianglong, Zhao, Hu, Wang, Zheng, Zheng, Minghao, Xiao, Yin, Chen, Lin, Olsen, Bjorn Reino, Feng, Jian Q.“…This study aims to test the hypothesis that osteocytes but not osteoblasts directly build mineralized bone structures, and that defects in osteocytes lead to the onset of hypophosphatemia rickets. The hypothesis was tested by developing and modifying multiple imaging techniques, including both in vivo and in vitro models plus two types of hypophosphatemia rickets models (Dmp1-null and Hyp, Phex mutation mice), and Dmp1-Cre induced high level of β-catenin models. …”
Publicado 2021
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487“…One year of treatment led to improvement of height z-score (p=0.019) and healing of the rickets (p<0.001) in the XLH patients, and those achievements were maintained after three years of treatment. …”
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488“…X-linked hypophosphatemia (XLH) is the most common hereditary form of rickets and deficiency of renal tubular phosphate transport in humans. …”
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489por Ramirez, Biochemist, Pablo, Palma, Isabel Di, Viterbo, Gisela, Perez-Garrido, Biochemist, Natalia Isabel, Pujana, Biochemist, Matias, Juanes, Matias, Belgorosky, Alicia, Marino, Roxana Marcela“…Background: Hereditary hypophosphatemic rickets (HHR) is a group of inherited disorders characterized by hypophosphatemia due to renal-phosphate wasting and impairment of vitamin D metabolism, rickets and disproportioned short stature. …”
Publicado 2020
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490por Beauchesne, Andrew R., Cara, Kelly Copeland, Krobath, Danielle M., Penkert, Laura Paige, Shertukde, Shruti P., Cahoon, Danielle S., Prado, Belen, Li, Ruogu, Yao, Qisi, Huang, Jing, Reh, Tee, Chung, Mei“…KEY MESSAGES: Results of a large complex systematic review suggest the current totality of evidence from trials and prospective observational studies do not reach sufficient certainty level to support a causal relationship between vitamin D intake and asthma, wheeze, eczema, infectious diseases, or rickets (most trials reported no rickets) in generally healthy infants and young children. …”
Publicado 2022
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491por Abdullah, Shadan Jabbar, Mahwi, Taha Othman, Mohamad Salih Saeed, Areewan, Abdulateef, Darya Saeed, Rahman, Heshu Sulaiman, Ahmed, Shaho Fatah, Abdulqader, Sarkan Ahmed“…X-linked hypophosphatemia (XLH) associated with short stature during childhood are mostly referred to the hospital and diagnosed as vitamin D deficiency rickets and received vitamin D before adulthood. A case is presented with clinical features of hypophosphatemia from childhood who did not seek medical care for diagnosis and treatment, nor did his mother or two brothers, who have short statures, bone pain, and fractures. …”
Publicado 2023
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492“…CONCLUSIONS: Hypophosphatemic rickets secondary to renal tubular acidosis was the working diagnosis. …”
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493“…Most patients presented with rickets which is a preventable condition.…”
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494por Ye, Liang, Morse, Leslie R., Zhang, Li, Sasaki, Hajime, Mills, Jason C., Odgren, Paul R., Sibbel, Greg, Stanley, James R. L., Wong, Gee, Zamarioli, Ariane, Battaglino, Ricardo A.“…Global Snx10-deficiency in mice results in a combined phenotype: osteopetrosis (due to osteoclast defect) and rickets (due to high stomach pH and low calcium availability, resulting in impaired bone mineralization). …”
Publicado 2015
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495por Lotfi, Asghar, Shiasi, Kobra, Amini, Razieh, Jahangiri, Mohammad, Sharif, Mohammad Reza, Akbari, Hossein, Talari, Hamidreza, Hajmobini, Zahra, Hami, Kamran, Kashani, Hamed Haddad“…The difference between the two feeding methods in precipitating rickets and osteopenia was not significant. CONCLUSION: According to the findings of current study, feeding on preterm formula (preNan) is associated with better and more desirable results, though the occurrence of rickets in the two groups had no significant difference.…”
Publicado 2016
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496“…Vitamin D deficiency and rickets are more common in non-western immigrants and refugees than in the native population. …”
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497por Babar, Ghufran“…Childhood hypophosphatasia, defined as onset of symptoms between six months and eighteen years, can present as rickets, pain, decreased mobility, deficits of growth, and fractures. …”
Publicado 2019
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498por Bouillon, Roger, Marcocci, Claudio, Carmeliet, Geert, Bikle, Daniel, White, John H, Dawson-Hughes, Bess, Lips, Paul, Munns, Craig F, Lazaretti-Castro, Marise, Giustina, Andrea, Bilezikian, John“…The etiology of endemic rickets was discovered a century ago. Vitamin D is the precursor of 25-hydroxyvitamin D and other metabolites, including 1,25(OH)(2)D, the ligand for the vitamin D receptor (VDR). …”
Publicado 2018
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499“…RESULTS: Here we investigated the site of bursicon action in Drosophila by examining the consequences on tanning of disabling the bursicon receptor (encoded by the rickets gene) in different tissues. To our surprise, we found that rapid tanning does not require rickets function in the epidermis but requires it instead in peptidergic neurons of the ventral nervous system (VNS). …”
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500por Haffner, Dieter, Emma, Francesco, Eastwood, Deborah M., Duplan, Martin Biosse, Bacchetta, Justine, Schnabel, Dirk, Wicart, Philippe, Bockenhauer, Detlef, Santos, Fernando, Levtchenko, Elena, Harvengt, Pol, Kirchhoff, Martha, Di Rocco, Federico, Chaussain, Catherine, Brandi, Maria Louisa, Savendahl, Lars, Briot, Karine, Kamenicky, Peter, Rejnmark, Lars, Linglart, Agnès“…In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. …”
Publicado 2019
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