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Journal Abstract Search

176 related items for PubMed ID: 24924704

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  • 44. Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants.
    Brazier F, Courbebaisse M, David A, Bergerat D, Leroy C, Lindner M, Maruani G, Saint Jacques C, Letavernier E, Hureaux M, Vargas-Poussou R, Prié D.
    Sci Rep; 2023 Jan 03; 13(1):85. PubMed ID: 36596813
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  • 45. Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series.
    Hanna C, Potretzke TA, Chedid M, Rangel LJ, Arroyo J, Zubidat D, Tebben PJ, Cogal AG, Torres VE, Harris PC, Sas DJ, Lieske JC, Milliner DS, Chebib FT.
    Kidney Med; 2022 Mar 03; 4(3):100419. PubMed ID: 35386604
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  • 46. Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells.
    Shiozaki Y, Segawa H, Ohnishi S, Ohi A, Ito M, Kaneko I, Kido S, Tatsumi S, Miyamoto K.
    J Med Invest; 2015 Mar 03; 62(3-4):209-18. PubMed ID: 26399350
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  • 48. "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect.
    Tieder M, Modai D, Shaked U, Samuel R, Arie R, Halabe A, Maor J, Weissgarten J, Averbukh Z, Cohen N.
    N Engl J Med; 1987 Jan 15; 316(3):125-9. PubMed ID: 3796683
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  • 49. Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
    Mannstadt M, Magen D, Segawa H, Stanley T, Sharma A, Sasaki S, Bergwitz C, Mounien L, Boepple P, Thorens B, Zelikovic I, Jüppner H.
    J Clin Endocrinol Metab; 2012 Oct 15; 97(10):E1978-86. PubMed ID: 22865906
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  • 50. Novel NaPi-2c mutations that cause mistargeting of NaPi-2c protein and uncoupling of Na-Pi cotransport cause HHRH.
    Levi M.
    Am J Physiol Renal Physiol; 2008 Aug 15; 295(2):F369-70. PubMed ID: 18524854
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  • 51. Hereditary hypophosphatemias: new genes in the bone-kidney axis.
    Negri AL.
    Nephrology (Carlton); 2007 Aug 15; 12(4):317-20. PubMed ID: 17635744
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  • 52. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.
    Eltan M, Yavas Abali Z, Turkyilmaz A, Gokce I, Abali S, Alavanda C, Arman A, Kirkgoz T, Guran T, Hatun S, Bereket A, Turan S.
    Calcif Tissue Int; 2022 Apr 15; 110(4):441-450. PubMed ID: 34761296
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  • 53. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.
    Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R.
    Bone; 2015 Dec 15; 81():89-96. PubMed ID: 26117226
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  • 54. A novel CLDN16 mutation in a large family with familial hypomagnesaemia with hypercalciuria and nephrocalcinosis.
    Deeb A, Abood SA, Simon J, Dastoor H, Pearce SH, Sayer JA.
    BMC Res Notes; 2013 Dec 10; 6():527. PubMed ID: 24321194
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  • 57. SLC34A3 GENE MUTATION AS A RARE CAUSE OF HYPOPHOSPHATEMIA IN TWO SIBLINGS.
    Karakilic-Ozturan E, Ozturk AP, Oney C, Kardelen Al AD, Yildirim ZY, Balci HI, Poyrazoglu S, Bas F, Darendeliler F.
    Acta Endocrinol (Buchar); 2022 Dec 10; 18(3):387-391. PubMed ID: 36699160
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  • 58. Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.
    Malloy PJ, Zhou Y, Wang J, Hiort O, Feldman D.
    J Bone Miner Res; 2011 Nov 10; 26(11):2710-8. PubMed ID: 21812032
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  • 59. Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction.
    Colazo JM, Reasoner SA, Holt G, Faugere MCM, Dahir KM.
    Case Rep Endocrinol; 2020 Nov 10; 2020():1047327. PubMed ID: 32695531
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  • 60. First report of a novel missense CLDN19 mutations causing familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a Chinese family.
    Yuan T, Pang Q, Xing X, Wang X, Li Y, Li J, Wu X, Li M, Wang O, Jiang Y, Dong J, Xia W.
    Calcif Tissue Int; 2015 Apr 10; 96(4):265-73. PubMed ID: 25555744
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