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Quoted phrase not found in phrase index: "Vitamin D Dependent Rickets 2"
Page 1
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S. Baroncelli GI, et al. Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. Curr Opin Endocrinol Diabetes Obes. 2012. PMID: 23108197 Review.
Activating mutations of FGF23 gene is the cause of autosomal dominant hypophosphatemic rickets. Iron deficiency may affect autosomal dominant hypophosphatemic rickets phenotype by regulating FGF23 production.Current treatment with activated vitamin D m …
Activating mutations of FGF23 gene is the cause of autosomal dominant hypophosphatemic rickets. Iron deficiency may affect autosomal …
The pathophysiology of hypophosphatemia.
Ito N, Hidaka N, Kato H. Ito N, et al. Best Pract Res Clin Endocrinol Metab. 2024 Mar;38(2):101851. doi: 10.1016/j.beem.2023.101851. Epub 2023 Nov 30. Best Pract Res Clin Endocrinol Metab. 2024. PMID: 38087658 Review.
FGF23 related, B. primary tubular dysfunction, C. disturbance of vitamin D metabolism, and D. parathyroid hormone 1 receptor (PTH1R) mediated. ...Topics for each group are described, including "ectopic FGF23 syndrome," "alcohol consumption-induced FGF23-related hypo …
FGF23 related, B. primary tubular dysfunction, C. disturbance of vitamin D metabolism, and D. parathyroid hormone 1 receptor ( …
Genetic disorders of Vitamin D biosynthesis and degradation.
Miller WL. Miller WL. J Steroid Biochem Mol Biol. 2017 Jan;165(Pt A):101-108. doi: 10.1016/j.jsbmb.2016.04.001. Epub 2016 Apr 6. J Steroid Biochem Mol Biol. 2017. PMID: 27060335 Review.
Mutations in CYP27B1 cause 1alpha-hydroxylase deficiency, also known as vitamin D dependent rickets type I or hereditary pseudo-vitamin D deficient rickets; very rare mutations in CYP2R1 can cause 25-hydroxylase deficiency. ...The …
Mutations in CYP27B1 cause 1alpha-hydroxylase deficiency, also known as vitamin D dependent rickets type I or he …
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.
These mutations result in the development of urinary phosphate (Pi) wasting and hypophosphatemic rickets, bowing, and short stature, as well as appropriately elevated 1,25(OH)(2)D levels, which sets this fibroblast growth factor 23 (FGF23)-independent disorder apart …
These mutations result in the development of urinary phosphate (Pi) wasting and hypophosphatemic rickets, bowing, and short stature, …
Genetic Diseases of Vitamin D Metabolizing Enzymes.
Jones G, Kottler ML, Schlingmann KP. Jones G, et al. Endocrinol Metab Clin North Am. 2017 Dec;46(4):1095-1117. doi: 10.1016/j.ecl.2017.07.011. Epub 2017 Oct 5. Endocrinol Metab Clin North Am. 2017. PMID: 29080636 Review.
Vitamin D metabolism involves 3 highly specific cytochrome P450 (CYP) enzymes (25-hydroxylase, 1alpha-hydroxylase, and 24-hydroxylase) involved in the activation of vitamin D(3) to the hormonal form, 1,25-(OH)(2)D(3), and the inactivation of 1,2 …
Vitamin D metabolism involves 3 highly specific cytochrome P450 (CYP) enzymes (25-hydroxylase, 1alpha-hydroxylase, and 24-hydr …
Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.
Méaux MN, Harambat J, Rothenbuhler A, Léger J, Kamenicky P, Soskin S, Boyer O, Boros E, D'Anella P, Mignot B, Gebhart M, Vic P, Richard N, Thivichon-Prince B, Francou B, Linglart A, Bacchetta J, Molin A. Méaux MN, et al. J Clin Endocrinol Metab. 2023 Mar 10;108(4):812-826. doi: 10.1210/clinem/dgac639. J Clin Endocrinol Metab. 2023. PMID: 36321535
INTRODUCTION: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-function variations in the gene encoding the vitamin D-activating enzyme 1alpha-hydroxylase (CYP27B1). ...(Ala129Thr) was associa …
INTRODUCTION: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-fun …
Subclinical vitamin D deficiency.
Cianferotti L, Marcocci C. Cianferotti L, et al. Best Pract Res Clin Endocrinol Metab. 2012 Aug;26(4):523-37. doi: 10.1016/j.beem.2011.12.007. Epub 2012 May 22. Best Pract Res Clin Endocrinol Metab. 2012. PMID: 22863394 Review.
The optimal vitamin D status, as defined by serum 25-hydroxyvitamin D [25(OH)D], is still controversial. ...The clinical manifestation of extreme vitamin D deficiency, i.e. rickets and osteomalacia, are rare. Levels of 25(OH)D 50 nmol/L are requ …
The optimal vitamin D status, as defined by serum 25-hydroxyvitamin D [25(OH)D], is still controversial. ...The clinical manif …
Treatment of hyperphosphatemia: the dangers of high PTH levels.
Bacchetta J. Bacchetta J. Pediatr Nephrol. 2020 Mar;35(3):493-500. doi: 10.1007/s00467-019-04400-w. Epub 2019 Nov 6. Pediatr Nephrol. 2020. PMID: 31696357 Review.
Even though parathyroid hormone (PTH) is an important biomarker of mineral and bone disorders associated to CKD (CKD-MBD), calcium, phosphate, alkaline phosphatase, and vitamin D are also crucial and should be assessed together. In pediatric dialysis, high PTH level …
Even though parathyroid hormone (PTH) is an important biomarker of mineral and bone disorders associated to CKD (CKD-MBD), calcium, phosphat …
Delayed diagnosis in Vitamin D-dependent rickets type II results in severe skeletal deformities.
Sohail E, Ahsan T, Jabeen R, Rehman UL, Ghaus S. Sohail E, et al. J Pak Med Assoc. 2022 Dec;72(12):2528-2530. doi: 10.47391/JPMA.5266. J Pak Med Assoc. 2022. PMID: 37246683 Free article.
Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. ...Both cases had severe hypocalcaem …
Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin …
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A.
Dursun F, Özgürhan G, Kırmızıbekmez H, Keskin E, Hacıhamdioğlu B. Dursun F, et al. J Clin Res Pediatr Endocrinol. 2019 Feb 20;11(1):34-40. doi: 10.4274/jcrpe.galenos.2018.2018.0121. Epub 2018 Oct 4. J Clin Res Pediatr Endocrinol. 2019. PMID: 30282619 Free PMC article.
OBJECTIVE: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in the 1alpha-hydroxylase gene (CYB27B1). ...VDDR1A should definitely be considered when a patient with signs of rickets has a normal …
OBJECTIVE: Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations i …
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