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281por Gafar, Sara MohammedAhmed, Fadlalbari, Ghassan Faisal, Abdalla, Asmahan T., Mohammed, Sawsan Abdel Rahim, Alrasheed, Mohammed Khalid, Taha, Isam Ahmed, Abdullah, Mohamed Ahmed“…Its diagnosis might be masked by clinical, biochemical, and radiological features of rickets. CASE PRESENTATION: A 12-year-old Sudanese boy presented with progressive lower limbs deformity and difficulty in walking for six months. …”
Publicado 2022
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283por Iwai, Yuichiro, Iijima, Ayano, Kise, Satoko, Nagao, Chika, Senda, Yuto, Yabu, Kana, Mano, Hiroki, Nishikawa, Miyu, Ikushiro, Shinichi, Yasuda, Kaori, Sakaki, Toshiyuki“…In this study, our primary goal was to investigate the manifestations of type II rickets in rats with the VDR(H301Q) mutation, analogous to the human VDR(H305Q). …”
Publicado 2023
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284por Mejia-Gaviria, Natalia, Gil-Peña, Helena, Coto, Eliecer, Pérez-Menéndez, Teresa M, Santos, Fernando“…Hereditary hypophosphatemic rickets with hypercalciuria is a rare autosomal recessive disorder (OMIM #241530), characterized by decreased renal phosphate reabsorption that leads to hypophosphatemia, rickets, and bone pain; hypophosphatemia is believed to stimulate 1,25 dihydroxyvitamin D synthesis which, in turn, results in hypercalciuria. …”
Publicado 2010
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285por Turan, Serap, Topcu, Burcu, Gökçe, Ibrahim, Güran, Tülay, Atay, Zeynep, Omar, Anjumanara, Akçay, Teoman, Bereket, Abdullah“…We aimed to study pediatric age- and sex-specific reference ranges for ALP by colorimetric assay using p-nitrophenyl phosphate as substrate and diethanolamine as buffer and also to compare the ALP levels in patients with different types of rickets. Methods: 1741 healthy children and adolescents (904 girls) were included in the study for normative data. 77 different ALP measurements from 38 nutritional rickets (NR), 7 vitamin D-dependent rickets (VDDR) and 8 hypophosphatemic rickets (HR) patients were included. …”
Publicado 2011
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286por Bahadure, Rakesh N., Thosar, Nilima, Kriplani, Ritika, Baliga, Sudhindra, Fulzele, Punit“…Rickets is among the most frequent childhood diseases in many developing countries. …”
Publicado 2012
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287por Wang, Xiaofang, Wang, Suzhen, Li, Changcheng, Gao, Tian, Liu, Ying, Rangiani, Afsaneh, Sun, Yao, Hao, Jianjun, George, Anne, Lu, Yongbo, Groppe, Jay, Yuan, Baozhi, Feng, Jian Q., Qin, Chunlin“…Surprisingly, both the global and mineralized tissue-specific cKO mice developed hypophosphatemic rickets (but not osteosclerosis), along with a significant downregulation of osteoblast differentiation markers and a dramatic elevation of fibroblast growth factor 23 (FGF23) in the serum and bone. …”
Publicado 2012
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288por Hasani-Ranjbar, Shirin, Amoli, Mahsa M., Ebrahim-Habibi, Azadeh, Dehghan, Ehsan, Soltani, Akbar, Amiri, Parvin, Larijani, Bagher“…Objective: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is an autosomal recessive form of hypophosphatemia with hyperphosphaturia, hypercalciuria, and hypercalcemia. …”
Publicado 2012
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289por Karunaratne, A., Davis, G.R., Hiller, J., Esapa, C.T., Terrill, N.J., Brown, S.D.M., Cox, R.D., Thakker, R.V., Gupta, H.S.“…Metabolic bone disorders such as rickets are associated with altered in vivo muscular force distributions on the skeletal system. …”
Publicado 2012
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290“…BACKGROUND: Vitamin D deficiency rickets is common in China. Genetic factors may play an important role in the susceptibility to rickets. …”
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291por Pang, Qianqian, Qi, Xuan, Jiang, Yan, Wang, Ou, Li, Mei, Xing, Xiaoping, Dong, Jin, Xia, Weibo“…Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. …”
Publicado 2016
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292por Miyai, Kentaro, Ariyasu, Daisuke, Numakura, Chikahiko, Yoneda, Kaori, Nakazato, Hitoshi, Hasegawa, Yukihiro“…Recently, ENPP1 is also reported as responsible for autosomal recessive hypophosphatemic rickets type 2. We show here a boy with homozygous ENPP1 mutations diagnosed as having GACI in early infancy. …”
Publicado 2015
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293Spiral Fracture in Young Infant Causing a Diagnostic Dilemma: Nutritional Rickets versus Child Abuse“…The differential diagnosis includes nonaccidental injury (NAI) and metabolic bone disease, including rickets. While rickets typically present after six months of age, multiple cases have been reported in younger infants. …”
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294“…We also examine the association of rickets with other diagnosis, such as malnutrition and pneumonia, and study the effect of rickets on regional hospital stays. …”
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295“…We present three cases of PHPT associated with rare skeletal manifestations of rickets. All three patients had radiological evidence of rickets with primary hyperparathyroidism. …”
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296Acute respiratory failure and generalized hypotonia secondary to vitamin D dependent rickets type 1Apor Ahmad, Noman, Mohamed Sobaihi, Mrouge, Al-Jabri, Mona, Al –Esaei, Nabil Abdulrahman, Al Zaydi, Abdullah M.“…Vitamin D dependent rickets is a rare autosomal recessive disorder secondary to mutation in 1 α hydroxylase enzyme gene. …”
Publicado 2018
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297“…China has serious lead pollution and a high incidence of childhood rickets. High lead levels have been reported in childhood rickets, but the results were inconsistent. …”
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298por Colares Neto, Guido de Paula, Yamauchi, Fernando Ide, Baroni, Ronaldo Hueb, Bianchi, Marco de Andrade, Gomes, Andrea Cavalanti, Chammas, Maria Cristina, Martin, Regina MatsunagaEnlace del recurso
Publicado 2020
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299por Pinjala, Anusha, Gastelum, Alheli Arce, Adel Maraqa, Sima Abdel Rahman, Samec, Joshua, Zena, Mohsen“…Background: Hereditary hypophosphatemic rickets is a debilitating disease with multiple skeletal abnormalities. …”
Publicado 2020
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300por Raimann, Adalbert, Mehany, Sarah N., Feil, Patricia, Weber, Michael, Pietschmann, Peter, Boni-Mikats, Andrea, Klepochova, Radka, Krššák, Martin, Häusler, Gabriele, Schneider, Johannes, Patsch, Janina M., Raum, KayEnlace del recurso
Publicado 2020
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