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Year Number of Results
2005 1
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2008 1
2012 3
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15 results

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Page 1
Hereditary hypophosphatemic rickets and craniosynostosis.
Arenas MA, Jaimovich S, Perez Garrido N, Del Pino M, Viterbo G, Marino R, Fano V. Arenas MA, et al. J Pediatr Endocrinol Metab. 2021 Jun 21;34(9):1105-1113. doi: 10.1515/jpem-2021-0042. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34147045
The Measurement and Interpretation of Fibroblast Growth Factor 23 (FGF23) Concentrations.
Heijboer AC, Cavalier E. Heijboer AC, et al. Calcif Tissue Int. 2023 Feb;112(2):258-270. doi: 10.1007/s00223-022-00987-9. Epub 2022 Jun 4. Calcif Tissue Int. 2023. PMID: 35665817 Free PMC article. Review.
Definite conclusions on the usefulness of the FGF23 measurement in people with CKD either as a marker for risk prediction or a as target for treatment remains to be determined. The latter applications would require dedicated prospective clinical trials, which may take year …
Definite conclusions on the usefulness of the FGF23 measurement in people with CKD either as a marker for risk prediction or a as tar …
Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.
Wang L, Kulaixi G, Zaiyinati J, Aibai G, Du D, Guo Y. Wang L, et al. BMC Pediatr. 2024 Feb 14;24(1):121. doi: 10.1186/s12887-024-04589-2. BMC Pediatr. 2024. PMID: 38355430 Free PMC article.
Simultaneously, unreported or clinically ambiguous pathogenic variants were predicted and annotated based on population databases. Any suspected pathogenic variants identified through this analysis were then validated using Sanger sequencing technology. ...This report show …
Simultaneously, unreported or clinically ambiguous pathogenic variants were predicted and annotated based on population databases. An …
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C. Zhu Z, et al. Kidney Int. 2024 May;105(5):1058-1076. doi: 10.1016/j.kint.2024.01.031. Epub 2024 Feb 15. Kidney Int. 2024. PMID: 38364990
The number of mutant alleles and baseline TRP (%) were identified as predictors for kidney and bone phenotypes, baseline TRP (%) furthermore predicted response to therapy. ...
The number of mutant alleles and baseline TRP (%) were identified as predictors for kidney and bone phenotypes, baseline TRP (%) furt …
Hereditary hypophosphatemic rickets with hypercalciuria: case report.
Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R. Areses-Trapote R, et al. Nefrologia. 2012 Jul 17;32(4):529-34. doi: 10.3265/Nefrologia.pre2012.Apr.11321. Nefrologia. 2012. PMID: 22806288 Free article. English, Spanish.
The exogenous supply of calcitriol, as advised in other hypophosphatemic rickets, may induce renal calcium deposits and nephrocalcinosis and worsens the prognosis....
The exogenous supply of calcitriol, as advised in other hypophosphatemic rickets, may induce renal calcium deposits and nephrocalcinosis and …
Polyostotic osteolysis and hypophosphatemic rickets with elevated serum fibroblast growth factor 23: A case report.
Sato T, Muroya K, Asakura Y, Yachie A, Nishimura G, Aida N, Machida J, Tanaka Y, Hasegawa T, Adachi M. Sato T, et al. Am J Med Genet A. 2015 Oct;167A(10):2430-4. doi: 10.1002/ajmg.a.37193. Epub 2015 Jun 8. Am J Med Genet A. 2015. PMID: 26059403
We could not perform octreotide scintigraphy or fluorodeoxyglucose-positron emission tomography, and thus could not completely exclude occult FGF23-producing tumors. However, considering the course of the disease, it is intriguing to assume that dysregulation of osteoclast …
We could not perform octreotide scintigraphy or fluorodeoxyglucose-positron emission tomography, and thus could not completely exclude occul …
SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H. Bergwitz C, et al. Am J Hum Genet. 2006 Feb;78(2):179-92. doi: 10.1086/499409. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358214 Free PMC article.
Nucleotide sequence analysis revealed a homozygous single-nucleotide deletion (c.228delC) in this candidate gene in all individuals affected by HHRH. This mutation is predicted to truncate the NaP(i)-IIc protein in the first membrane-spanning domain and thus likely results …
Nucleotide sequence analysis revealed a homozygous single-nucleotide deletion (c.228delC) in this candidate gene in all individuals affected …
15 results