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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
Genetic Causes of Rickets.
Acar S, Demir K, Shi Y. Acar S, et al. J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):88-105. doi: 10.4274/jcrpe.2017.S008. Epub 2017 Dec 27. J Clin Res Pediatr Endocrinol. 2017. PMID: 29280738 Free PMC article. Review.
The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due to impairment in renal tubular phosphate reabsorption as a result of FGF23-related or FGF23-independent causes. ...
The second group involves genetic disorders of excessive renal phosphate loss (hereditary hypophosphatemic rickets) due …
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. ...
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH; OMIM: 241530) is a rare autosomal recessive disorder wit …
Congenital Conditions of Hypophosphatemia Expressed in Adults.
Marcucci G, Brandi ML. Marcucci G, et al. Calcif Tissue Int. 2021 Jan;108(1):91-103. doi: 10.1007/s00223-020-00695-2. Epub 2020 May 14. Calcif Tissue Int. 2021. PMID: 32409880 Review.
The main congenital conditions of hypophosphatemia expressed in adulthood include several forms of hereditary hypophosphatemic rickets and a congenital disorder of vitamin D metabolism characterized by osteomalacia and hypophosphatemia in adult patients. ...
The main congenital conditions of hypophosphatemia expressed in adulthood include several forms of hereditary hypophosphatemic …
Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets.
Turan I, Erdem S, Kotan LD, Ozdemir Dilek S, Tastan M, Gurbuz F, Bişgin A, Karabay Bayazıt A, Topaloglu AK, Yuksel B. Turan I, et al. J Pediatr Endocrinol Metab. 2021 Apr 13;34(5):639-648. doi: 10.1515/jpem-2020-0624. Print 2021 May 26. J Pediatr Endocrinol Metab. 2021. PMID: 33852231
OBJECTIVES: Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. ...
OBJECTIVES: Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosph …
Research progress on renal calculus associate with inborn error of metabolism.
Song Y, Zhao C, Li D. Song Y, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023 Apr 25;52(2):169-177. doi: 10.3724/zdxbyxb-2022-0698. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2023. PMID: 37283101 Free PMC article. Review. Chinese, English.
The hereditary conditions associated with renal calculus include primary hyperoxaluria, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis, Bartter syndrome, primary distal renal tubular acidosis, infant hypercalcemia, hereditary …
The hereditary conditions associated with renal calculus include primary hyperoxaluria, cystinuria, Dent disease, familial hypomagnesemia wi …
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.
Two decades after the discovery of the hormone FGF23, we know more about phosphate homeostasis as it turned out that FGF23 is the central hormone that regulates this. Hereditary hypophosphatemic rickets and tumor-induced osteomalacia could by then be explaine …
Two decades after the discovery of the hormone FGF23, we know more about phosphate homeostasis as it turned out that FGF23 is the central ho …
FGF23 and syndromes of abnormal renal phosphate handling.
Bergwitz C, Jüppner H. Bergwitz C, et al. Adv Exp Med Biol. 2012;728:41-64. doi: 10.1007/978-1-4614-0887-1_3. Adv Exp Med Biol. 2012. PMID: 22396161 Free PMC article. Review.
Loss-of-function mutations in these two transporters lead to autosomal recessive Fanconi syndrome or to hereditary hypophosphatemic rickets with hypercalciuria, respectively....
Loss-of-function mutations in these two transporters lead to autosomal recessive Fanconi syndrome or to hereditary hypophosphatemi …
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria.
Hasani-Ranjbar S, Ejtahed HS, Amoli MM, Bitarafan F, Qorbani M, Soltani A, Yarjoo B. Hasani-Ranjbar S, et al. J Clin Res Pediatr Endocrinol. 2018 Nov 29;10(4):343-349. doi: 10.4274/jcrpe.0057. Epub 2018 May 29. J Clin Res Pediatr Endocrinol. 2018. PMID: 29809158 Free PMC article.
OBJECTIVE: To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). METHODS: Clinical examination and biochemical profile results and gene analysis of 12 …
OBJECTIVE: To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosp …
29 results