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501“…Three patients exhibited rickets on X-ray findings. The mean duration of treatment was 4.8±2.9 weeks. …”
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502por Jullien, Sophie“…We looked at existing recommendations and supporting evidence on the effectiveness of vitamin D supplementation in infancy for reducing vitamin D deficiency and for preventing rickets and infections. We also looked at optimal dose of vitamin D and the age until which vitamin D supplementation is beneficial. …”
Publicado 2021
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503por Christakos, Sylvia“…When these mice are fed diets with high calcium and lactose, rickets is prevented. The studies using mouse models provide supporting evidence indicating that the major physiological function of 1,25(OH)(2)D(3)/VDR is intestinal calcium absorption. …”
Publicado 2021
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504por Gadion, Margaux, Hervé, Agathe, Herrou, Julia, Rothenbuhler, Anya, Smail‐Faugeron, Violaine, Courson, Frédéric, Linglart, Agnès, Chaussain, Catherine, Biosse Duplan, Martin“…X‐linked hypophosphatemia (XLH) is a rare genetic disorder that disrupts skeletal and dental mineralization. In addition to rickets in children, XLH patients also have frequent spontaneous dental abscesses that increase the risk of tooth loss and may lead to facial cellulitis. …”
Publicado 2022
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505“…It is often associated with hypokalemia, hypophosphatemia, and rickets or osteomalacia. Although it is usually found in the setting of other well-established non-renal diseases, Fanconi syndrome may present without identifiable etiology or association. …”
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506“…Patient achieved mid parental height, denied history of calcium or phosphate metabolism disorders/ rickets in the family. Physical exam was not suggestive of rickets and skeletal survey showed normal bone mineralization. …”
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507“…Osteomalacia is a diet deficiency disease of the same category as rickets. The deficiency is principally in the fat-soluble vitamine content of the diet, though there may be a calcium deficiency at the same time. …”
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508“…We present the clinical phenotype of a toddler who presented with vitamin D-resistant rickets, with one of the highest initial levels of alkaline phosphatase and parathyroid hormone (PTH) levels reported in the literature. …”
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509“…Diagnosis of vitamin D deficiency/rickets/disorders of calcium metabolism had increased odds of long bone fracture [AOR 49·5 (95%CI 18·3–134)] and rib fracture [AOR 617 (95%CI 162–2506)]. …”
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510“…Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, autosomal recessive disorder caused by mutations in the SLC34A3 gene that encodes the renal sodium-dependent phosphate cotransporter 2c (NaPi-IIc). …”
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511por Braithwaite, Vickie S, Demir, Ayse Y, Mwangi, Martin N, Jones, Kerry S, Prentice, Ann, Prentice, Andrew M, Andang’o, Pauline E A, Verhoef, Hans“…Maternal iron deficiency may be implicated in the pathogenesis of hypophosphataemia-driven rickets in offspring through perturbed FGF23 expression. …”
Publicado 2020
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512“…BACKGROUND: We previously identified the urinary biomarkers to diagnose calcium deficiency and nutritional rickets by ultra-performance liquid chromatography/quadrupole time-of-flight tandem mass spectrometry (UPLC/Q-TOF MS/MS). …”
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513por Park, Peong Gang, Lim, Seon Hee, Lee, HyunKyung, Ahn, Yo Han, Cheong, Hae Il, Kang, Hee Gyung“…Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. …”
Publicado 2021
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514por Namba, Noriyuki, Kubota, Takuo, Muroya, Koji, Tanaka, Hiroyuki, Kanematsu, Masanori, Kojima, Masahiro, Orihara, Shunichiro, Kanda, Hironori, Seino, Yoshiki, Ozono, Keiichi“…Efficacy of burosumab on biochemical markers, clinical markers of rickets, motor function, and growth was also evaluated. …”
Publicado 2022
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515por Filler, Guido, Schott, Clara, Salerno, Fabio Rosario, Ens, Andrea, McIntyre, Christopher William, Díaz González de Ferris, Maria Esther, Stein, Robert“…BACKGROUND: Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) (SLC34A3 gene, OMIM 241530) is an autosomal recessive disorder that results in a loss of function of the sodium-phosphate NPT2c channel at the proximal tubule. …”
Publicado 2022
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516por Liu, Junyi, Fu, Liqun, Jin, Shanshan, Jia, Yubing, Zhang, Jingyi, Sun, Changhao, Na, Lixin“…Serum insulin, glucose, 25(OH)D(3) concentrations in children and serum glucose and lipids levels in adults were measured. Rickets history was also investigated in adults, which was used to define vitamin D deficiency in childhood. …”
Publicado 2022
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517“…Currently, clinical application of the immunoassays is established in the diagnosis of hereditary hypophosphatemic rickets and diagnosis and follow-up of tumor-induced osteomalacia. …”
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518por Pappenheimer, Alwin M.“…The picture closely resembles that found in cases of renal rickets in children.…”
Publicado 1936
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519“…There were no clinical or radiological features of rickets. The child had developed multiorgan failure due to cardiogenic shock at the time of admission and could not be saved despite adequate ventilatory and pharmacologic support. …”
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520“…Here we report a rare case of malignant osteopetrosis presented with evidence of short stature, anemia, thrombocytopenia, hepatosplenomegaly, rickets, aqueductal stenosis, and hydrocephalus with resultant optic atrophy.…”
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