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Quoted phrase not found in phrase index: "Autosomal dominant hypocalcemia 1"
Page 1
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV. Hannan FM, et al. Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. Nat Rev Endocrinol. 2018. PMID: 30443043 Free PMC article. Review.
The importance of the CaSR for these calcitropic processes is highlighted by loss-of-function and gain-of-function CaSR mutations that cause familial hypocalciuric hypercalcaemia and autosomal dominant hypocalcaemia, respectively, and also by the fact that al …
The importance of the CaSR for these calcitropic processes is highlighted by loss-of-function and gain-of-function CaSR mutations that cause …
Medical Hypoparathyroidism.
Siraj N, Hakami Y, Khan A. Siraj N, et al. Endocrinol Metab Clin North Am. 2018 Dec;47(4):797-808. doi: 10.1016/j.ecl.2018.07.006. Epub 2018 Oct 11. Endocrinol Metab Clin North Am. 2018. PMID: 30390814 Review.
Hypoparathyroidism is a metabolic disorder characterized by hypocalcemia, hyperphosphatemia, and inadequate levels of or function of parathyroid hormone (PTH). ...
Hypoparathyroidism is a metabolic disorder characterized by hypocalcemia, hyperphosphatemia, and inadequate levels of or function of …
Autosomal Dominant Hypocalcemia Type 1: A Systematic Review.
Roszko KL, Stapleton Smith LM, Sridhar AV, Roberts MS, Hartley IR, Gafni RI, Collins MT, Fox JC, Nemeth EF. Roszko KL, et al. J Bone Miner Res. 2022 Oct;37(10):1926-1935. doi: 10.1002/jbmr.4659. Epub 2022 Aug 22. J Bone Miner Res. 2022. PMID: 35879818 Free PMC article.
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of the calcium-sensing receptor gene (CASR). ...Seizures, the most frequent clinical presentation, occurred in 39% of patients. In pati …
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism due to activating variants of …
New Directions in Treatment of Hypoparathyroidism.
Tabacco G, Bilezikian JP. Tabacco G, et al. Endocrinol Metab Clin North Am. 2018 Dec;47(4):901-915. doi: 10.1016/j.ecl.2018.07.013. Endocrinol Metab Clin North Am. 2018. PMID: 30390821 Review.
In 2015, the Food and Drug Administration approved recombinant human PTH(1-84) [rhPTH(1-84)] as a treatment for hypoparathyroidism. Long-term studies of rhPTH(1-84), up to 6 years, have demonstrated continued efficacy of this replacement agent. ...Calcilytic …
In 2015, the Food and Drug Administration approved recombinant human PTH(1-84) [rhPTH(1-84)] as a treatment for hypoparathyroi …
Advances in the treatment of hypoparathyroidism with PTH 1-34.
Winer KK. Winer KK. Bone. 2019 Mar;120:535-541. doi: 10.1016/j.bone.2018.09.018. Epub 2018 Sep 21. Bone. 2019. PMID: 30243992 Review.
PTH 1-34 delivered by insulin pump normalized serum and urine calcium and markers of bone turnover. Additionally, pump delivery of PTH 1-34 produced stable magnesium values within the normal range and reduced magnesium excretion. ...
PTH 1-34 delivered by insulin pump normalized serum and urine calcium and markers of bone turnover. Additionally, pump delivery of PT …
Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635).
Roberts MS, Gafni RI, Brillante B, Guthrie LC, Streit J, Gash D, Gelb J, Krusinska E, Brennan SC, Schepelmann M, Riccardi D, Bin Khayat ME, Ward DT, Nemeth EF, Rosskamp R, Collins MT. Roberts MS, et al. J Bone Miner Res. 2019 Sep;34(9):1609-1618. doi: 10.1002/jbmr.3747. Epub 2019 Jul 26. J Bone Miner Res. 2019. PMID: 31063613 Free PMC article.
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, gain-of-function mutations of the calcium-sensing receptor gene (CAR). ...However, the in vitro responses to NPSP795 did not correlate with any …
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare form of hypoparathyroidism caused by heterozygous, gain- …
Treatment of Hypoparathyroidism by Re-Establishing the Effects of Parathyroid Hormone.
Rejnmark L. Rejnmark L. Endocrinol Metab (Seoul). 2024 Apr;39(2):262-266. doi: 10.3803/EnM.2024.1916. Epub 2024 Apr 4. Endocrinol Metab (Seoul). 2024. PMID: 38572533 Free PMC article. Review.
Palopegteriparatide is a prodrug with sustained release of PTH(1-34) designed to provide stable physiological PTH levels for 24 hours/day. ...Another long-acting PTH analog with effects on the parathyroid hormone receptor (eneboparatide) is currently being tested in a phas …
Palopegteriparatide is a prodrug with sustained release of PTH(1-34) designed to provide stable physiological PTH levels for 24 hours …
Long-Term Parathyroid Hormone 1-34 Replacement Therapy in Children with Hypoparathyroidism.
Winer KK, Kelly A, Johns A, Zhang B, Dowdy K, Kim L, Reynolds JC, Albert PS, Cutler GB Jr. Winer KK, et al. J Pediatr. 2018 Dec;203:391-399.e1. doi: 10.1016/j.jpeds.2018.08.010. J Pediatr. 2018. PMID: 30470382 Free PMC article.
Mean daily PTH 1-34 dose was 0.75 0.15 g/kg/day. Treatment duration was 6.9 3.1 years (range 1.5-10 years). ...Mean serum and 24-hour urine calcium levels were 2.05 0.11 mmol/L (N: 2.05-2.5 mmol/L) and 6.93 1.3 mmol/24 hour (N: 1.25-7.5 mmol/24 …
Mean daily PTH 1-34 dose was 0.75 0.15 g/kg/day. Treatment duration was 6.9 3.1 years (range 1.5-10 years). ...Mean ser …
Efficacy and Toxicity of Calcitonin Treatment in Children with Cherubism: A Single-Center Cohort Study.
Schreuder WH, Meijer EB, Cleven AHG, Edelenbos E, Klop C, Schreurs R, de Jong RT, van Maarle MC, Horsthuis RBG, de Lange J, van den Berg H. Schreuder WH, et al. J Bone Miner Res. 2023 Dec;38(12):1822-1833. doi: 10.1002/jbmr.4922. Epub 2023 Nov 3. J Bone Miner Res. 2023. PMID: 37823782 Free article.
Cherubism is a rare autosomal dominant disease characterized by expansile osteolytic jawbone lesions. ...Most adverse effects were mild and low grade, with the most severe being one grade 3 symptomatic hypocalcemia requiring hospitalization and early treatmen …
Cherubism is a rare autosomal dominant disease characterized by expansile osteolytic jawbone lesions. ...Most adverse effects …
Galpha(11) mutation in mice causes hypocalcemia rectifiable by calcilytic therapy.
Gorvin CM, Hannan FM, Howles SA, Babinsky VN, Piret SE, Rogers A, Freidin AJ, Stewart M, Paudyal A, Hough TA, Nesbit MA, Wells S, Vincent TL, Brown SD, Cox RD, Thakker RV. Gorvin CM, et al. JCI Insight. 2017 Feb 9;2(3):e91103. doi: 10.1172/jci.insight.91103. JCI Insight. 2017. PMID: 28194447 Free PMC article.
Heterozygous germline gain-of-function mutations of G-protein subunit alpha(11) (Galpha(11)), a signaling partner for the calcium-sensing receptor (CaSR), result in autosomal dominant hypocalcemia type 2 (ADH2). ADH2 may cause symptomatic hypocalcemia …
Heterozygous germline gain-of-function mutations of G-protein subunit alpha(11) (Galpha(11)), a signaling partner for the calcium-sensing re …
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