“…A mechanistic explanation for the FS and rickets, involving microtubule-mediated translocation of transporter proteins to and from the apical membrane of renal proximal tubular cells, is proposed.…”
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“…X-linked hypophosphatemia (XLH), the most common form of hereditary rickets, is due to inactivation of PHEX, resulting in increased circulating fibroblast growth factor 23. …”
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“…PHEX has been identified from analyses of human X-linked hypophosphatemic rickets and Hyp mutant mouse models. We here demonstrated a newly established dwarfism-like Kbus/Idr mouse line to be a novel Hyp model. …”
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“…Excessive actions of FG23 result in several kinds of hypophosphatemic rickets/osteomalacia including X-linked hypophosphatemic rickets (XLH) and tumor-induced osteomalacia. …”
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“…These can be divided into the following groups: ‘Rickets and other metabolic disorders’, ‘skeletal dysplasias and other genetic disorders’, ‘trauma’ and ‘descriptive articles without specific underlying disorder’. …”
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“…These factors, fibroblast growth factor 23 (FGF-23), secreted frizzled-related protein 4 (sFRP-4), fibroblast growth factor 7 (FGF-7) and matrix extracellular phosphoglycoprotein (MEPE), have been shown to play a role in the pathogenesis of various hypophosphatemic and hyperphosphatemic disorders, such as oncogenic osteomalacia, X-linked hypophosphatemic rickets, autosomal dominant hypophosphatemic rickets, autosomal recessive hypophosphatemia and tumoral calcinosis. …”
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“…Hypophosphatemia leads to rickets and osteomalacia, the latter of which results in decreased biomechanical integrity of bones, accompanied by poor fracture healing. …”
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“…Fanconi-Bickel syndrome is an extremely rare hereditary metabolic disease, characterized by hepatomegaly due to glycogen storage, refractory hypophosphatemic rickets, marked growth retardation and proximal renal tubular acidosis. …”
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“…Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. …”
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“…Prolonged hypophosphataemia decreases apoptosis of hypertrophic chondrocytes in growth plates (causing rickets) and decreases mineralisation of existing bone (causing osteomalacia). …”
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“…With this case we want to highlight the morbidity associated with undiagnosed infantile rickets. Nutritional rickets needs to be considered in young children presenting with seizures, especially in those who are exclusively breastfed and are coming from high-risk populations. 1. …”
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“…Pseudohypoparathyroidism is best diagnosed in the setting of normal 25-OH vitamin D levels, as several cases have been reported in the literature that the first stage of vitamin D deficient rickets may mimic pseudohypoparathyroidism, with hypocalcemia, hyperphosphatemia, elevated PTH, and no signs of rickets. …”
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“…Bone deformities, radiological signs of active rickets and growth retardation were the most common findings at diagnosis. …”
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“…His father and sister were healthy, and his mother was diagnosed with rickets in childhood, which resulted in short physical stature and lower limb deformities. …”
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“…AIM: X-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. …”
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“…She was subsequently diagnosed with rickets at 5 years of age and RTA/Fanconi syndrome at 15 years of age. …”
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“…PURPOSE: Dmp1 (dentin matrix protein1) null mice (Dmp1(−/−)) display hypophosphatemic rickets with a sharp increase in fibroblast growth factor 23 (FGF23). …”
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“…Serum levels of 25-hydroxyvitamin D (25(OH)D) ≥ 50 nmol/L were considered indicative of vitamin D sufficiency and 25(OH)D < 27.5 nmol/L as being indicative of increased risk for rickets. Additionally, 25(OH)D > 125 nmol/L was considered possibly adversely high. …”
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“…Enhanced osteoclast activity was noted in healing rickets after 72 h (p < 0.05), but no differences in TRAP expression were detected in osteoblasts or osteocytes. …”
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“…At presentation hepatomegaly, jaundice, rickets and high gamma glutamyl transferase (GGT) were observed in 87.5% of patients. …”
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