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Quoted phrase not found in phrase index: "Hypophosphatemic rickets and hyperparathyroidism"
Page 1
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C, Miyamoto KI. Bergwitz C, et al. Pflugers Arch. 2019 Jan;471(1):149-163. doi: 10.1007/s00424-018-2184-2. Epub 2018 Aug 14. Pflugers Arch. 2019. PMID: 30109410 Review.
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare autosomal recessive disorder with an estimated prevalence of 1:250,000 that was originally described by Tieder et al. ...These mutations result in the development of urinary phosp …
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare autosomal recessive disorder with an es …
Nutritional and metabolic rickets.
Teotia M, Teotia SP. Teotia M, et al. Indian J Pediatr. 1997 Mar-Apr;64(2):153-7. doi: 10.1007/BF02752435. Indian J Pediatr. 1997. PMID: 10771831 Review.
Nutritional rickets is caused by vitamin D deficiency due to lack of exposure to sunlight. ...Low or undetectable plasma levels of 25-OHD, in presence of high plasma 1,25(OH)2D and IPTH are often observed during treatment with vitamin D. Even the marginal intakes of …
Nutritional rickets is caused by vitamin D deficiency due to lack of exposure to sunlight. ...Low or undetectable plasma levels of 25 …
Hyperparathyroidism in Patients With X-Linked Hypophosphatemia.
Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P. Lecoq AL, et al. J Bone Miner Res. 2020 Jul;35(7):1263-1273. doi: 10.1002/jbmr.3992. Epub 2020 Mar 27. J Bone Miner Res. 2020. PMID: 32101626 Free article.
The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. ...Patients had higher PTH conc …
The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing se …
The enigma of hyperparathyroidism in hypophosphatemic rickets.
Schmitt CP, Mehls O. Schmitt CP, et al. Pediatr Nephrol. 2004 May;19(5):473-7. doi: 10.1007/s00467-004-1443-y. Epub 2004 Mar 11. Pediatr Nephrol. 2004. PMID: 15015068 Review.
Familial hypophosphatemic rickets (XLH) is caused by inactivating mutations of the cell surface metalloproteinase PHEX. ...Decreased serum concentrations of ionized calcium following phosphate supplements might contribute to the development of hyperparathy …
Familial hypophosphatemic rickets (XLH) is caused by inactivating mutations of the cell surface metalloproteinase PHEX. …
Elevated morbidity and mortality in patients with chronic idiopathic hypophosphatemia: a nationwide cohort study.
Kim KJ, Song JE, Kim JH, Hong N, Kim SG, Lee J, Rhee Y. Kim KJ, et al. Front Endocrinol (Lausanne). 2023 Aug 10;14:1229750. doi: 10.3389/fendo.2023.1229750. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37635983 Free PMC article.
BACKGROUND: Chronic idiopathic hypophosphatemia (CIH) induced by X-linked hypophosphatemic rickets or tumor-induced osteomalacia is a rare inherited or acquired disorder. ...RESULTS: In the distribution of age at diagnosis, a large peak was observed in …
BACKGROUND: Chronic idiopathic hypophosphatemia (CIH) induced by X-linked hypophosphatemic rickets or tumor-induced ost …
X-linked hypophosphatemic rickets: an Italian experts' opinion survey.
Emma F, Cappa M, Antoniazzi F, Bianchi ML, Chiodini I, Eller Vainicher C, Di Iorgi N, Maghnie M, Cassio A, Balsamo A, Baronio F, de Sanctis L, Tessaris D, Baroncelli GI, Mora S, Brandi ML, Weber G, D'Ausilio A, Lanati EP. Emma F, et al. Ital J Pediatr. 2019 May 31;45(1):67. doi: 10.1186/s13052-019-0654-6. Ital J Pediatr. 2019. PMID: 31151476 Free PMC article.
BACKGROUND: X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by mutation in the PHEX gene, resulting in excessive expression of the phosphaturic factor FGF23. ...Treatment protocols varied substantially am …
BACKGROUND: X-linked hypophosphatemic rickets (XLH) is the first cause of inherited hypophosphatemia and is caused by m …
Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients.
Bosman A, Appelman-Dijkstra NM, Boot AM, de Borst MH, van de Ven AC, de Jongh RT, Bökenkamp A, van den Bergh JP, van der Eerden BCJ, Zillikens MC. Bosman A, et al. Calcif Tissue Int. 2024 Mar;114(3):255-266. doi: 10.1007/s00223-023-01172-2. Epub 2024 Jan 16. Calcif Tissue Int. 2024. PMID: 38226986 Free PMC article.
X-linked hypophosphatemia (XLH) is the most common monogenetic cause of chronic hypophosphatemia, characterized by rickets and osteomalacia. ...Characteristics of XLH patients participating in the Dutch observational registry for genetic hypophospha …
X-linked hypophosphatemia (XLH) is the most common monogenetic cause of chronic hypophosphatemia, characterized by rickets …
Effects of Burosumab Treatment on Mineral Metabolism in Children and Adolescents With X-linked Hypophosphatemia.
Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D. Ewert A, et al. J Clin Endocrinol Metab. 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. J Clin Endocrinol Metab. 2023. PMID: 37097907

RESULTS: At baseline, patients showed hypophosphatemia (-4.4 SD), reduced TmP/GFR (-6.5 SD), and elevated ALP (2.7 SD, each P < .001 vs healthy children) irrespective of age, suggesting active rickets despite prior therapy with oral phosphate and active vitamin D

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RESULTS: At baseline, patients showed hypophosphatemia (-4.4 SD), reduced TmP/GFR (-6.5 SD), and elevated ALP (2.7 SD, each P < .0

…
Vitamin D and type II sodium-dependent phosphate cotransporters.
Kido S, Kaneko I, Tatsumi S, Segawa H, Miyamoto K. Kido S, et al. Contrib Nephrol. 2013;180:86-97. doi: 10.1159/000346786. Epub 2013 May 6. Contrib Nephrol. 2013. PMID: 23652552 Review.
We identified a functional vitamin D receptor-responsive element in the human NaPi-IIa and NaPi-IIc genes in renal epithelial cells. In an analysis of vitamin D receptor (VDR)-null mice, we observed early onset of hypophosphatemia. The cause of the hypophosphatem …
We identified a functional vitamin D receptor-responsive element in the human NaPi-IIa and NaPi-IIc genes in renal epithelial cells. In an a …
Targeting the underlying pathophysiology in X-linked hypophosphatemic rickets in adults.
Assunção H, Prata AR, Silva J, Malcata A. Assunção H, et al. ARP Rheumatol. 2022 Jan-Mar;1(1):83-86. ARP Rheumatol. 2022. PMID: 35633579 Free article. English.
X-linked hypophosphatemic rickets (XLHR) is a life-long phosphate waste disorder that presents in early childhood with lower limb deformities, stunted growth, and bone and joint pain. ...A pseudofracture was identified in the radiography of long bones, and secondary …
X-linked hypophosphatemic rickets (XLHR) is a life-long phosphate waste disorder that presents in early childhood with lower l …
35 results