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1993 2
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2004 4
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2008 1
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2010 4
2011 9
2012 11
2013 7
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247 results

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Page 1
Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.
Trombetti A, Al-Daghri N, Brandi ML, Cannata-Andía JB, Cavalier E, Chandran M, Chaussain C, Cipullo L, Cooper C, Haffner D, Harvengt P, Harvey NC, Javaid MK, Jiwa F, Kanis JA, Laslop A, Laurent MR, Linglart A, Marques A, Mindler GT, Minisola S, Yerro MCP, Rosa MM, Seefried L, Vlaskovska M, Zanchetta MB, Rizzoli R. Trombetti A, et al. Nat Rev Endocrinol. 2022 Jun;18(6):366-384. doi: 10.1038/s41574-022-00662-x. Epub 2022 Apr 28. Nat Rev Endocrinol. 2022. PMID: 35484227 Review.
A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to clarify its long-term efficacy, particularly in adults. ...The focus of treatment should be not only on the physical manifestations and challen …
A novel therapeutic approach is the monoclonal anti-FGF23 antibody burosumab. Although promising, further studies are required to cla …
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A. Haffner D, et al. Nat Rev Nephrol. 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. Nat Rev Nephrol. 2019. PMID: 31068690 Free PMC article.
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as rickets, lower limb deformities, pain, poor mineralization of the teeth and disproportionate short stature in children as well as hy …
X-linked hypophosphataemia (XLH) is the most common cause of inherited phosphate wasting and is associated with severe complications such as …
Global guidance for the recognition, diagnosis, and management of tumor-induced osteomalacia.
Jan de Beur SM, Minisola S, Xia WB, Abrahamsen B, Body JJ, Brandi ML, Clifton-Bligh R, Collins M, Florenzano P, Houillier P, Imanishi Y, Imel EA, Khan AA, Zillikens MC, Fukumoto S. Jan de Beur SM, et al. J Intern Med. 2023 Mar;293(3):309-328. doi: 10.1111/joim.13593. Epub 2022 Dec 13. J Intern Med. 2023. PMID: 36511653 Free PMC article. Review.
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by mesenchymal tumors that secrete fibroblast growth factor 23 (FGF23). Patients present with progressive bone pain, muscle weakness, and fragility fractures. ...Serum phosphate should be meas …
Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome caused by mesenchymal tumors that secrete fibroblast growth factor 23 ( …
Fibrous Dysplasia of Bone and McCune-Albright Syndrome: A Bench to Bedside Review.
Hartley I, Zhadina M, Collins MT, Boyce AM. Hartley I, et al. Calcif Tissue Int. 2019 May;104(5):517-529. doi: 10.1007/s00223-019-00550-z. Epub 2019 Apr 29. Calcif Tissue Int. 2019. PMID: 31037426 Free PMC article. Review.
This manifests on a broad clinical spectrum ranging from insignificant solitary lesions to severe disease with deformities, fractures, functional impairment, and pain. Fibrous dysplasia may present in isolation or in association with hyperfunctioning endocrinopathies and c …
This manifests on a broad clinical spectrum ranging from insignificant solitary lesions to severe disease with deformities, fractures, funct …
Rickets guidance: part I-diagnostic workup.
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D. Haffner D, et al. Pediatr Nephrol. 2022 Sep;37(9):2013-2036. doi: 10.1007/s00467-021-05328-w. Epub 2021 Dec 15. Pediatr Nephrol. 2022. PMID: 34910242 Free PMC article. Review.
Common features include thickened wrists and ankles due to widened metaphyses, growth failure, bone pain, muscle weakness, waddling gait, and leg bowing. Affected infants often show delayed closure of the fontanelles, frontal bossing, and craniotabes. ...The latter are due …
Common features include thickened wrists and ankles due to widened metaphyses, growth failure, bone pain, muscle weakness, waddling g …
X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.
Baroncelli GI, Mora S. Baroncelli GI, et al. Front Endocrinol (Lausanne). 2021 Aug 6;12:688309. doi: 10.3389/fendo.2021.688309. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34421819 Free PMC article. Review.
It is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, which leads to reduced tubular reabsorption of phosphate and renal 1alpha-hydroxylase activity and increased renal 24-hydroxylase activity. ...Recently, some trials o …
It is caused by an impaired regulation of fibroblast growth factor 23 (FGF23) due to a PHEX gene mutation, which leads to reduced tub …
Burosumab for the Treatment of Tumor-Induced Osteomalacia.
Jan de Beur SM, Miller PD, Weber TJ, Peacock M, Insogna K, Kumar R, Rauch F, Luca D, Cimms T, Roberts MS, San Martin J, Carpenter TO. Jan de Beur SM, et al. J Bone Miner Res. 2021 Apr;36(4):627-635. doi: 10.1002/jbmr.4233. Epub 2021 Jan 12. J Bone Miner Res. 2021. PMID: 33338281 Free PMC article. Clinical Trial.
Tumor-induced osteomalacia (TIO) is caused by phosphaturic mesenchymal tumors producing fibroblast growth factor 23 (FGF23) and is characterized by impaired phosphate metabolism, skeletal health, and quality of life. UX023T-CL201 is an ongoing, open-label, phase 2 study in …
Tumor-induced osteomalacia (TIO) is caused by phosphaturic mesenchymal tumors producing fibroblast growth factor 23 (FGF23) and is ch …
FGF23 and its role in X-linked hypophosphatemia-related morbidity.
Beck-Nielsen SS, Mughal Z, Haffner D, Nilsson O, Levtchenko E, Ariceta G, de Lucas Collantes C, Schnabel D, Jandhyala R, Mäkitie O. Beck-Nielsen SS, et al. Orphanet J Rare Dis. 2019 Feb 26;14(1):58. doi: 10.1186/s13023-019-1014-8. Orphanet J Rare Dis. 2019. PMID: 30808384 Free PMC article. Review.
Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforementioned manifestations of the disease. Elevated FGF23 has also been observed in many other diseases of hypophosphatemia, and a range …
Patients with XLH present with elevated levels of fibroblast growth factor 23 (FGF23), which is thought to mediate many of the aforem …
Rickets guidance: part II-management.
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D. Haffner D, et al. Pediatr Nephrol. 2022 Oct;37(10):2289-2302. doi: 10.1007/s00467-022-05505-5. Epub 2022 Mar 29. Pediatr Nephrol. 2022. PMID: 35352187 Free PMC article.
Burosumab, a fully humanized FGF23-antibody, was recently approved for treatment of X-linked hypophosphatemia (XLH) and TIO and shown to be superior for treatment of XLH compared to conventional treatment. Forms of hypophosphatemic rickets independent of FGF23 due t …
Burosumab, a fully humanized FGF23-antibody, was recently approved for treatment of X-linked hypophosphatemia (XLH) and TIO and shown …
Fibrous Dysplasia.
Boyce AM. Boyce AM. 2019 Mar 27. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. 2019 Mar 27. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. PMID: 26561700 Free Books & Documents. Review.
In particular control of growth hormone excess is important to prevent craniofacial FD expansion, and control of FGF23-mediated hypophosphatemia is important to prevent fracture, deformity, and bone pain. ...Bisphosphonates may be effective in treating FD-related bo …
In particular control of growth hormone excess is important to prevent craniofacial FD expansion, and control of FGF23-mediated hypop …
247 results