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241por Braz, Délia Oliveira, Oliveira, Renata Santarem, Lopes, Fernanda Sousa Cardoso, Pereira, Lara, Domingues, Alessandra, de Castro, Luiz Claudio Goncalves“…Background: Hypophosphatemic rickets (HR) is usually an inherited disorder, but it may also occur in several clinical settings as an acquired condition due to phosphate absorption and internal distribution issues. …”
Publicado 2020
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242“…RATIONALE: Hypophosphatemic rickets (HR) is a rare hereditary disease characterized by hypophosphatemia, defects in bone mineralization, and rickets, and surgical intervention is warranted for the patient of severe skeletal deformity. …”
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243“…Correlation between asthmatic infants with rickets and vitamin D, inflammatory factors and immunoglobulin was investigated. …”
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244por Nagara, Syunsuke, Usui, Shinji, Kawashiri, Miwa, Kondo, Masashi, Yamagishi, Atsushi“…We report the case of a boy with partial skull defects in addition to widespread craniotabes due to vitamin D deficiency rickets. He was born at 30 wk and 4 d of gestation (birth weight, 2406 g). …”
Publicado 2021
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245“…BACKGROUND: Hypophosphatemic rickets is associated with delayed walking, bone deformities, growth failure and physical dysfunction that can limit daily activities. …”
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246“…Background: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) is a rare condition of phosphate wasting due to variants in the SLC34A3 gene, encoding the sodium-phosphate cotransporter 2c (NaPi2c) at the brush border of proximal renal tubular cells (1). …”
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247por Diaz Escagedo, Patricia, Fiscaletti, Melissa, Olivier, Patricia, Hudon, Chloé, Miranda, Valancy, Miron, Marie-Claude, Campeau, Philippe M., Alos, Nathalie“…INTRODUCTION: Rickets is not an unusual diagnosis for pediatricians even currently in developed countries. …”
Publicado 2021
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248por Ferreira, Carlos R, Kintzinger, Kristina, Hackbarth, Mary E, Botschen, Ulrike, Nitschke, Yvonne, Mughal, M Zulf, Baujat, Genevieve, Schnabel, Dirk, Yuen, Eric, Gahl, William A, Gafni, Rachel I, Liu, Qing, Huertas, Pedro, Khursigara, Gus, Rutsch, Frank“…Eleven affected individuals presenting with rickets and without a GACI diagnosis, termed autosomal recessive hypophosphatemic rickets type 2 (ARHR2), all had confirmed ENPP1 variants. …”
Publicado 2021
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249“…Our results therefore provide a model of studying the connection of Notch and Wnt5a pathways with Rickets. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s44194-022-00007-w.…”
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250“…One case was related to vitamin D-deficient rickets, and the final two cases were adult-onset vitamin D-resistant rickets misdiagnosed as ankylosing spondylitis. …”
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251por Okawa, Rena, Hamada, Masakazu, Takagi, Misato, Matayoshi, Saaya, Nakano, Kazuhiko“…X-linked hypophosphatemic rickets (XLH) is a disease characterized by impaired bone mineralization, and its dental features include gingival abscesses and large pulp spaces due to dentin dysplasia. …”
Publicado 2022
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252por Yuniati, Renni, Hellmi, Rakhma Yanti, Dwijayanti, Gema Citra, Astuti, Meira Dewi Kusuma, Pals, Gerard, Micha, Dimitra, Faradz, Sultana MH“…The low levels of vitamin D 25-OH may most likely be the main reason for the occurrence of rickets in this patient aside from the genetic disorder.…”
Publicado 2022
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253por Rohdin, Cecilia, Wang, Chao, Brander, Gustaf, Rondahl, Veronica, Karlsson, Åsa, Friling, Lisa, Fischetti, Anthony, Meadows, Jennifer, Häggström, Jens, Jäderlund, Karin Hultin, Ljungvall, Ingrid, Lindblad‐Toh, Kerstin“…Rickets is a disorder of bone development and can be the result of either dietary or genetic causes. …”
Publicado 2023
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254por Rivero-García, Pamela, Aguilar-Lugo-Gerez, Juan José, Kimball, Tamara N, Reza-Albarrán, Alfredo Adolfo“…Vitamin D hydroxylation-deficient rickets type 1A is an autosomal recessive disorder caused by pathogenic variants in CYP27B1 gene, which encodes for 1α-hydroxylase, the enzyme responsible for the conversion of 25-OH vitamin D into its active form 1,25(OH)2 vitamin D. …”
Publicado 2023
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255“…Rickets were reversed, the cubs survived, and subsequent litters thrived. …”
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256“…The aim of this study was to investigate the effect of vitamin D therapy on serum adiponectin levels in children with vitamin D deficiency rickets (VDDR). Methods: 21 patients with VDDR were included in the study. …”
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257“…Mutations in the phosphate-regulating endopeptidase homolog, X-linked, gene (PHEX), which encodes a zinc-dependent endopeptidase that is involved in bone mineralization and renal phosphate reabsorption, cause the most common form of hypophosphatemic rickets, X-linked hypophosphatemic rickets (XLH). …”
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258por Fujiwara, Makoto, Namba, Noriyuki, Ozono, Keiichi, Arisaka, Osamu, Yokoya, Susumu“…Hereditary hypophosphatemic rickets represented by X-linked hypophosphatemic rickets (XLH) is a rare disorder characterized by hypophosphatemia, elevated alkaline phosphatase (ALP) and undermineralization of bone. …”
Publicado 2013
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259“…Rickets is softening of bones due to defective mineralization of cartilage in the epiphyseal growth plate, leading to widening of ends of long bones, growth retardation, and skeletal deformities in children. …”
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260por Anthonissen, Joris, Ossendorf, Christian, Vetter, Thomas, Habermann, Björn, Rommens, Pol M.“…Hereditary hypophosphatemic rickets (HHR) is a rare disorder of renal phosphate wasting and the most common form of heritable rickets. …”
Publicado 2014
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