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Journal Abstract Search

195 related items for PubMed ID: 32311027

  • 41. Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.
    Haito-Sugino S, Ito M, Ohi A, Shiozaki Y, Kangawa N, Nishiyama T, Aranami F, Sasaki S, Mori A, Kido S, Tatsumi S, Segawa H, Miyamoto K.
    Am J Physiol Cell Physiol; 2012 May 01; 302(9):C1316-30. PubMed ID: 22159077
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  • 42. Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family.
    Braithwaite V, Pettifor JM, Prentice A.
    Bone; 2013 Mar 01; 53(1):216-20. PubMed ID: 23246670
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  • 43. Novel Variant of SLC34A3 in a Compound Heterozygous Brazilian Girl with Hereditary Hypophosphatemic Rickets with Hypercalciuria.
    Valadares LP, de Carvalho DR.
    J Clin Res Pediatr Endocrinol; 2023 Sep 08. PubMed ID: 37680384
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  • 49. [Mutation analysis of four pedigrees affected with hypophosphatemic rickets through targeted next-generation sequencing].
    Bai Y, Liu N, Shao M, Qin G, Gao X, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct 10; 35(5):638-643. PubMed ID: 30298485
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  • 51. Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
    Lenherr-Taube N, Young EJ, Furman M, Elia Y, Assor E, Chitayat D, Uster T, Kirwin S, Robbins K, Vinette KMB, Daneman A, Marshall CR, Collins C, Thummel K, Sochett E, Levine MA.
    J Clin Endocrinol Metab; 2021 Sep 27; 106(10):2915-2937. PubMed ID: 34125233
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  • 52. HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.
    Bhadada SK, Sridhar S, Dhiman V, Wong K, Bennetts B, Naot D, Jayaraman S, Cundy T.
    AACE Clin Case Rep; 2020 Sep 27; 6(3):e105-e112. PubMed ID: 32524022
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  • 55. 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 27; 295(2):F369-70. PubMed ID: 18524854
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  • 56. Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
    Wang Q, Chen JJ, Wei LY, Ding Y, Liu M, Li WJ, Su C, Gong CX.
    Orphanet J Rare Dis; 2024 Mar 19; 19(1):126. PubMed ID: 38504242
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  • 57. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
    Fearn A, Allison B, Rice SJ, Edwards N, Halbritter J, Bourgeois S, Pastor-Arroyo EM, Hildebrandt F, Tasic V, Wagner CA, Hernando N, Sayer JA, Werner A.
    Physiol Rep; 2018 Jun 19; 6(12):e13715. PubMed ID: 29924459
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  • 58. Phosphate transport: molecular basis, regulation and pathophysiology.
    Tenenhouse HS.
    J Steroid Biochem Mol Biol; 2007 Mar 19; 103(3-5):572-7. PubMed ID: 17270430
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  • 59. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
    Ma SL, Vega-Warner V, Gillies C, Sampson MG, Kher V, Sethi SK, Otto EA.
    PLoS One; 2015 Mar 19; 10(6):e0130729. PubMed ID: 26107949
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