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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.
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.
In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association with hypophosphataemia and renal phosphate wasting in the absence of vitamin D or calcium deficiency. ...
In this Evidence-Based Guideline, we recommend that the diagnosis of XLH is based on signs of rickets and/or osteomalacia in association wit …
Comparison of calcimimetic R568 and calcitriol in mineral homeostasis in the Hyp mouse, a murine homolog of X-linked hypophosphatemia.
Leifheit-Nestler M, Kucka J, Yoshizawa E, Behets G, D'Haese P, Bergen C, Meier M, Fischer DC, Haffner D. Leifheit-Nestler M, et al. Bone. 2017 Oct;103:224-232. doi: 10.1016/j.bone.2017.06.019. Epub 2017 Jul 18. Bone. 2017. PMID: 28728941
We hypothesized that mineral homeostasis is differentially affected by R568 and 1,25D with respect to the PTH-vitamin D-FGF23-Klotho axis and bone health. ...Our data indicate that monotherapy with R568 reduced PTH and FGF23 synthesis in bone, but failed to restore vitamin …
We hypothesized that mineral homeostasis is differentially affected by R568 and 1,25D with respect to the PTH-vitamin D-FGF23-Klotho …
Paracrine Effects of FGF23 on the Heart.
Leifheit-Nestler M, Haffner D. Leifheit-Nestler M, et al. Front Endocrinol (Lausanne). 2018 May 28;9:278. doi: 10.3389/fendo.2018.00278. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 29892269 Free PMC article. Review.
Clinical practice recommendations for treatment with active vitamin D analogues in children with chronic kidney disease Stages 2-5 and on dialysis.
Shroff R, Wan M, Nagler EV, Bakkaloglu S, Cozzolino M, Bacchetta J, Edefonti A, Stefanidis CJ, Vande Walle J, Ariceta G, Klaus G, Haffner D, Schmitt CP; European Society for Paediatric Nephrology Chronic Kidney Disease Mineral and Bone Disorders and Dialysis Working Groups. Shroff R, et al. Nephrol Dial Transplant. 2017 Jul 1;32(7):1114-1127. doi: 10.1093/ndt/gfx080. Nephrol Dial Transplant. 2017. PMID: 28873971 Free PMC article.
In patients with chronic kidney disease (CKD), renal synthesis of active vitamin D [1,25-dihydroxyvitamin D (1,25(OH)2D)] declines and is associated with hypocalcaemia, secondary hyperparathyroidism and the spectrum of CKD-mineral and bone disorder (MBD). ...There a …
In patients with chronic kidney disease (CKD), renal synthesis of active vitamin D [1,25-dihydroxyvitamin D (1,25(OH)2D)] decl …
Clinical practice recommendations for native vitamin D therapy in children with chronic kidney disease Stages 2-5 and on dialysis.
Shroff R, Wan M, Nagler EV, Bakkaloglu S, Fischer DC, Bishop N, Cozzolino M, Bacchetta J, Edefonti A, Stefanidis CJ, Vande Walle J, Haffner D, Klaus G, Schmitt CP; European Society for Paediatric Nephrology Chronic Kidney Disease Mineral and Bone Disorders and Dialysis Working Groups. Shroff R, et al. Nephrol Dial Transplant. 2017 Jul 1;32(7):1098-1113. doi: 10.1093/ndt/gfx065. Nephrol Dial Transplant. 2017. PMID: 28873969 Free PMC article.
Vitamin D deficiency is widely prevalent and often severe in children and adults with chronic kidney disease (CKD). Although native vitamin D {25-hydroxyvitamin D [25(OH)D]} is thought to have pleiotropic effects on many organ systems, its skeletal eff …
Vitamin D deficiency is widely prevalent and often severe in children and adults with chronic kidney disease (CKD). Although native v …
Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases: A Clinical Practice Recommendation With Systematic Literature Reviews.
Gimpel C, Avni FE, Bergmann C, Cetiner M, Habbig S, Haffner D, König J, Konrad M, Liebau MC, Pape L, Rellensmann G, Titieni A, von Kaisenberg C, Weber S, Winyard PJD, Schaefer F. Gimpel C, et al. JAMA Pediatr. 2018 Jan 1;172(1):74-86. doi: 10.1001/jamapediatrics.2017.3938. JAMA Pediatr. 2018. PMID: 29181500
Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets.
Meyerhoff N, Haffner D, Staude H, Wühl E, Marx M, Beetz R, Querfeld U, Holder M, Billing H, Rabl W, Schröder C, Hiort O, Brämswig JH, Richter-Unruh A, Schnabel D, Živičnjak M; Hypophosphatemic Rickets Study Group of the “Deutsche Gesellschaft für Kinderendokrinologie und -diabetologie” and “Gesellschaft für Pädiatrische Nephrologie”. Meyerhoff N, et al. Pediatr Nephrol. 2018 Mar;33(3):447-456. doi: 10.1007/s00467-017-3820-3. Epub 2017 Oct 20. Pediatr Nephrol. 2018. PMID: 29058153 Clinical Trial.
METHODS: We carried out a follow-up analysis of a randomized controlled open-label GH study in short prepubertal children with XLH on phosphate and active vitamin D treatment. ...
METHODS: We carried out a follow-up analysis of a randomized controlled open-label GH study in short prepubertal children with XLH on phosph …
Pubertal development in children with chronic kidney disease.
Haffner D, Zivicnjak M. Haffner D, et al. Pediatr Nephrol. 2017 Jun;32(6):949-964. doi: 10.1007/s00467-016-3432-3. Epub 2016 Jul 27. Pediatr Nephrol. 2017. PMID: 27464647 Review.
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