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301por Rothenbuhler, Anya, Fadel, Nathalie, Debza, Yahya, Bacchetta, Justine, Diallo, Mamadou Tidiane, Adamsbaum, Catherine, Linglart, Agnès, Di Rocco, Federico“…X‐linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets and osteomalacia in children because of increased FGF23 secretion and renal phosphate wasting. …”
Publicado 2018
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302por Al-Jaberi, Fatima A. H., Kongsbak-Wismann, Martin, Aguayo-Orozco, Alejandro, Krogh, Nicolai, Buus, Terkild B., Lopez, Daniel V., Rode, Anna K. O., Gravesen, Eva, Olgaard, Klaus, Brunak, Søren, Woetmann, Anders, Ødum, Niels, Bonefeld, Charlotte M., Geisler, CarstenEnlace del recurso
Publicado 2021
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303por Fortin, Carol-Ann, Girard, Lysanne, Bonenfant, Chloé, Leblanc, Josianne, Cruz-Marino, Tania, Blackburn, Marie-Eve, Desmeules, Mathieu, Bouchard, Luigi“…BACKGROUND: Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. …”
Publicado 2022
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304por Bermeo Cabrera, Marcia Janneth, Ordoñez Chacha, Pablo Roberto, Reza‐Albarrán, Alfredo Adolfo, Ordoñez Chacha, Ana Karina, Acero, Marcy Acosta, Rodas Serrano, AgustinEnlace del recurso
Publicado 2022
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305por Rickets, Benjamin MerrillEnlace del recurso
Publicado 1907
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306por Patra, Soumya, Nadri, Gulnaz, Chowdhary, Harish, Pemde, Harish K., Singh, Varinder, Chandra, Jagdish“…Though all the cases published till date were secondary to drugs, myeloma, hematological disorders, etc., we are reporting the first case of idiopathic Fanconi's syndrome along with nephrogenic diabetes insipidus in a child who presented to us as resistant rickets. Medline search did not reveal any case of nephrogenic diabetes insipidus associated with idiopathic Fanconi syndrome. …”
Publicado 2011
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307“…Radiographs of knees and wrists confirmed the presence of florid rickets. The family (including 2 unaffected siblings and the mother) were investigated for hereditary rickets. …”
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308por Al-Sharafi, Butheinah A, Al-Imad, Shafiq A, Shamshair, Amani M, Al-Faqeeh, Derhim H“…CONCLUSION: We are presenting this case because it shows a severe case of rickets after malabsorption for many years. Celiac disease should be kept in mind as a cause of rickets in patients not responding to usual forms of treatment or when associated with other manifestations of malabsorption. …”
Publicado 2014
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309por Poon, Kok Siong, Sng, Andrew Anjian, Ho, Cindy Weili, Koay, Evelyn Siew-Chuan, Loke, Kah Yin“…We report a 7-month-old boy with a family history of hypophosphatemic rickets., who demonstrated early clinical evidence of rickets, although serial biochemical findings could not definitively confirm rickets. …”
Publicado 2015
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310por Hirao, Yujiro, Chikuda, Hirotaka, Oshima, Yasushi, Matsubayashi, Yoshitaka, Tanaka, Sakae“…INTRODUCTION: Ectopic ossification of the spinal ligaments is not uncommon in patients with Vitamin D-resistant rickets (VDRR), but the long-term consequences of this condition have not been reported. …”
Publicado 2016
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311por Özcabı, Bahar, Tahmiscioğlu Bucak, Feride, Jaferova, Sevinç, Oruç, Çiğdem, Adrovic, Amra, Ceylaner, Serdar, Ercan, Oya, Evliyaoğlu, Olcay“…Vitamin D-dependent rickets type 1A (VDDR-1A) (Online Mendelian Inheritance in Man #264700) is a rare, autosomal recessively inherited disorder due to inactivating mutations in CYP27B1. …”
Publicado 2016
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312por Piloya, Thereza, Odongkara, Beatrice, Were, Edward Maloba, Ameda, Faith, Mworozi, Edison, Laigong, Paul“…BACKGROUND: There’s abundant sunshine in the tropics but severe rickets is still observed. Nutritional rickets is associated with an increased risk of acute lower respiratory infections. …”
Publicado 2018
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314“…It is of two types–vitamin D-dependent rickets-I (VDDR-I) and vitamin D-dependent rickets type II (VDDR-II). …”
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315por EL-Sobky, Tamer A., Samir, Shady, Baraka, Mostafa M., Fayyad, Tamer A., Mahran, Mahmoud A., Aly, Ahmad S., Amen, John, Mahmoud, Shady“…METHODS: Fifty children (male:female, 27:23) with knee coronal plane deformities (knees:physes, 86:99), (varum:valgum, 51:35) secondary to nutritional rickets were subjected to femoral and/or tibial temporary hemiepiphysiodesis using a two-hole 8-plate. …”
Publicado 2020
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316“…Introduction Rickets is a condition that can affect bones of infants and children. …”
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317por Colazo, Juan M., Reasoner, Seth A., Holt, Ginger, Faugere, Marie C. M., Dahir, Kathryn M.“…There was no known family history of rickets. A bone biopsy with metabolic studies was performed for diagnostic and prognostic reasons. …”
Publicado 2020
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318por Floreskul, Vilius, Juma, Fatema Z., Daniel, Anjali B., Zamir, Imran, Rawdin, Andrew, Stevenson, Matthew, Mughal, Zulf, Padidela, Raja“…Background: Literature on the cost of management of rickets and cost-effectiveness of vitamin D supplementation in preventing rickets is lacking. …”
Publicado 2020
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319por Li, Yunfei, Yuan, Xin, Chen, Ruimin, Lin, Xiangquan, Shangguan, Huakun, Yang, Xiaohong, Zhang, Ying“…OBJECTIVE: Vitamin D-dependent rickets type IA (VDDR-IA) is a rare autosomal recessive disorder characterized by the early onset of severe rickets. …”
Publicado 2020
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