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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 …
FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.
Fukumoto S. Fukumoto S. J Mol Endocrinol. 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. J Mol Endocrinol. 2021. PMID: 33295878 Review.
FGF23 reduces serum phosphate by suppressing proximal tubular phosphate reabsorption and intestinal phosphate absorption. After the identification of FGF23, several kinds of hypophosphatemic rickets/osteomalacia such as X-linked hypophosphatemia (XLH) and tumor-indu …
FGF23 reduces serum phosphate by suppressing proximal tubular phosphate reabsorption and intestinal phosphate absorption. After the identifi …
Hereditary Metabolic Bone Diseases: A Review of Pathogenesis, Diagnosis and Management.
Charoenngam N, Nasr A, Shirvani A, Holick MF. Charoenngam N, et al. Genes (Basel). 2022 Oct 17;13(10):1880. doi: 10.3390/genes13101880. Genes (Basel). 2022. PMID: 36292765 Free PMC article. Review.
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most diverse groups among rare diseases. In this review, we examine 25 selected hereditary metabolic bone diseases and recognized genetic v
Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal homeostasis and encompass one of the most d
A clinician's guide to X-linked hypophosphatemia.
Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. Carpenter TO, et al. J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2. J Bone Miner Res. 2011. PMID: 21538511 Free PMC article. Review.
X-linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. Physicians, patients, and support groups have all expressed concerns about the dearth of information about this disease and the lack of tre …
X-linked hypophosphatemia (XLH) is the prototypic disorder of renal phosphate wasting, and the most common form of heritable rickets. …
Rickets, Vitamin D, and Ca/P Metabolism.
Miller WL, Imel EA. Miller WL, et al. Horm Res Paediatr. 2022;95(6):579-592. doi: 10.1159/000527011. Epub 2022 Nov 29. Horm Res Paediatr. 2022. PMID: 36446330 Free article. Review.
Rickets was a major public health problem dating from Roman times, and medical descriptions of rickets date from the 17th century. ...Autosomal dominant hypophosphatemic rickets similarly led to the discovery of FGF23, a phosphate-wasting humoral facto
Rickets was a major public health problem dating from Roman times, and medical descriptions of rickets date from the 17th cent
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.
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. ...However, conventional treatment does not improve phosphate metabolism and it shows poor and slow effects in improving rickets lesions and linear growth. Recently, so …
X-linked hypophosphatemic rickets (XLH) is the commonest inherited form of rickets. ...However, conventional treatment …
Hypercalcemic Disorders in Children.
Stokes VJ, Nielsen MF, Hannan FM, Thakker RV. Stokes VJ, et al. J Bone Miner Res. 2017 Nov;32(11):2157-2170. doi: 10.1002/jbmr.3296. Epub 2017 Nov 2. J Bone Miner Res. 2017. PMID: 28914984 Free PMC article. Review.
PTH-dependent hypercalcemia is usually caused by parathyroid tumors, which may give rise to primary hyperparathyroidism (PHPT) or tertiary hyperparathyroidism, which usually arises in association with chronic renal failure and in the treatment of hypophosphatemic ricket
PTH-dependent hypercalcemia is usually caused by parathyroid tumors, which may give rise to primary hyperparathyroidism (PHPT) or tertiary h …
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J. Laurent MR, et al. Front Endocrinol (Lausanne). 2021 Mar 19;12:641543. doi: 10.3389/fendo.2021.641543. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 33815294 Free PMC article. Review.
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting …
X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, …
FGF23 and Hypophosphatemic Rickets/Osteomalacia.
Takashi Y, Kawanami D, Fukumoto S. Takashi Y, et al. Curr Osteoporos Rep. 2021 Dec;19(6):669-675. doi: 10.1007/s11914-021-00709-4. Epub 2021 Nov 10. Curr Osteoporos Rep. 2021. PMID: 34755323 Review.
RECENT FINDINGS: Excessive FGF23 production has been shown to underline several kinds of hypophosphatemic rickets/osteomalacia including X-linked hypophosphatemia and tumor-induced osteomalacia. ...The inhibition of excessive FGF23 activity has been approved as a ne …
RECENT FINDINGS: Excessive FGF23 production has been shown to underline several kinds of hypophosphatemic rickets/osteomalacia …
Refractory Rickets.
Chinoy A, Padidela R. Chinoy A, et al. Indian J Pediatr. 2023 Jun;90(6):574-581. doi: 10.1007/s12098-023-04538-4. Epub 2023 Apr 19. Indian J Pediatr. 2023. PMID: 37074534 Free PMC article. Review.
Nutritional rickets, caused by vitamin D and/or calcium deficiency is by far the most common cause of rickets. In resource-limited settings, it is therefore not uncommon to treat rickets with vitamin D and calcium. If rickets fails to heal and/or if th …
Nutritional rickets, caused by vitamin D and/or calcium deficiency is by far the most common cause of rickets. In resource-lim …
247 results