Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1957 1
1958 1
1962 1
1963 1
1973 1
1976 1
1978 1
1980 2
1981 1
1982 1
1983 2
1985 3
1987 1
1988 1
1989 2
1990 3
1991 6
1992 4
1993 2
1994 1
1995 2
1997 6
1998 3
1999 1
2000 4
2001 6
2002 1
2003 4
2004 6
2005 9
2006 6
2007 8
2008 6
2009 9
2010 10
2011 13
2012 11
2013 10
2014 10
2015 8
2016 14
2017 14
2018 11
2019 20
2020 21
2021 26
2022 34
2023 24
2024 11

Text availability

Article attribute

Article type

Publication date

Search Results

300 results

Results by year

Filters applied: . Clear all
Page 1
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA. Imel EA, et al. Lancet. 2019 Jun 15;393(10189):2416-2427. doi: 10.1016/S0140-6736(19)30654-3. Epub 2019 May 16. Lancet. 2019. PMID: 31104833 Free PMC article. Clinical Trial.
The primary endpoint was change in rickets severity at week 40, assessed by the Radiographic Global Impression of Change global score. All patients who received at least one dose of treatment were included in the primary and safety analyses. ...For the primary endpoint at …
The primary endpoint was change in rickets severity at week 40, assessed by the Radiographic Global Impression of Change global score …
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.
Linglart A, Imel EA, Whyte MP, Portale AA, Högler W, Boot AM, Padidela R, Van't Hoff W, Gottesman GS, Chen A, Skrinar A, Scott Roberts M, Carpenter TO. Linglart A, et al. J Clin Endocrinol Metab. 2022 Feb 17;107(3):813-824. doi: 10.1210/clinem/dgab729. J Clin Endocrinol Metab. 2022. PMID: 34636899 Free PMC article. Clinical Trial.
In 41 children with open distal femoral and proximal tibial growth plates (from both treatment groups), total Rickets Severity Score significantly decreased by 0.9 0.1 (least squares mean SE; P < 0.0001) from baseline to week 160. ...
In 41 children with open distal femoral and proximal tibial growth plates (from both treatment groups), total Rickets Severity Score …
Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.
Ward LM, Glorieux FH, Whyte MP, Munns CF, Portale AA, Högler W, Simmons JH, Gottesman GS, Padidela R, Namba N, Cheong HI, Nilsson O, Mao M, Chen A, Skrinar A, Roberts MS, Imel EA. Ward LM, et al. J Clin Endocrinol Metab. 2022 Jul 14;107(8):e3241-e3253. doi: 10.1210/clinem/dgac296. J Clin Endocrinol Metab. 2022. PMID: 35533340 Free PMC article. Clinical Trial.
The main outcome measure included the least squares means difference (LSMD) in Radiographic Global Impression of Change (RGI-C) rickets total score from baseline to week 64. RESULTS: The LSMD in outcomes through 64 weeks on burosumab vs conventional therapy by age group we …
The main outcome measure included the least squares means difference (LSMD) in Radiographic Global Impression of Change (RGI-C) rickets tota …
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
BACKGROUND: Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to describe the clinical and auxological characteristic of children with hypophosphatemic rickets and craniosynostosis, describe the …
BACKGROUND: Craniosynostosis is an underdiagnosed complication associated with hypophosphatemic rickets. The study aims to des …
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 …
Where is bone science taking us?
Langdahl BL, Uitterlinden AG, Ralston SH. Langdahl BL, et al. Best Pract Res Clin Rheumatol. 2022 Sep;36(3):101791. doi: 10.1016/j.berh.2022.101791. Epub 2022 Nov 3. Best Pract Res Clin Rheumatol. 2022. PMID: 36336607 Free article. Review.
Advances have also been made in understanding the genetic basis of the more common polygenic bone diseases, including osteoporosis and Paget's disease of bone (PDB). Polygenic profiles are used for establishing genetic risk scores aiming at early diagnosis and intervention …
Advances have also been made in understanding the genetic basis of the more common polygenic bone diseases, including osteoporosis and Paget …
New treatments for rare bone diseases: hypophosphatemic rickets/osteomalacia.
Marques JVO, Moreira CA, Borba VZC. Marques JVO, et al. Arch Endocrinol Metab. 2022 Nov 11;66(5):658-665. doi: 10.20945/2359-3997000000555. Arch Endocrinol Metab. 2022. PMID: 36382755 Free PMC article. Review.
It increased and sustained the serum phosphorus levels, decreased the rickets severity and pain scores, and improved mineralization. It offers a new perspective on the treatment of chronic and disabling diseases....
It increased and sustained the serum phosphorus levels, decreased the rickets severity and pain scores, and improved mineralization. …
Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R. Stürznickel J, et al. J Bone Miner Res. 2022 Aug;37(8):1580-1591. doi: 10.1002/jbmr.4630. Epub 2022 Jul 8. J Bone Miner Res. 2022. PMID: 35689455 Free article.
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic variants in the solute carrier family 34-member 3 (SLC34A3) gene. ...Interestingly, individuals with nephrocalcinosis showed significantly incr …
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) represents an FGF23-independent disease caused by biallelic var …
Bone characteristics of autosomal dominant hypophosphatemic rickets patients.
Liu C, Ni X, Zhao Z, Qi W, Jiang Y, Li M, Wang O, Xing X, Xia W. Liu C, et al. Bone. 2023 Feb;167:116602. doi: 10.1016/j.bone.2022.116602. Epub 2022 Nov 5. Bone. 2023. PMID: 36347435
OBJECTIVE: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease caused by activating mutations in fibroblast growth factor 23 (FGF23) gene. ...The symptomatic patients presented with low bone density and fractures in X rays, with decreased Z score …
OBJECTIVE: Autosomal dominant hypophosphatemic rickets (ADHR) is a rare disease caused by activating mutations in fibroblast g …
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
Pathogenic variants in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium-dependent phosphate cotransporter 2c (NPT2c), cause hereditary hypophosphatemic rickets with hypercalciuria (HHRH). Here, we report a pooled analysis of clinical and la …
Pathogenic variants in solute carrier family 34, member 3 (SLC34A3), the gene encoding the sodium-dependent phosphate cotransporter 2c (NPT2 …
300 results