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Journal Abstract Search

170 related items for PubMed ID: 30798342

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  • 2. A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
    Chi Y, Zhao Z, He X, Sun Y, Jiang Y, Li M, Wang O, Xing X, Sun AY, Zhou X, Meng X, Xia W.
    Bone; 2014 Feb; 59():114-21. PubMed ID: 24246249
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  • 6. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.
    Yu Y, Sanderson SR, Reyes M, Sharma A, Dunbar N, Srivastava T, Jüppner H, Bergwitz C.
    Bone; 2012 May; 50(5):1100-6. PubMed ID: 22387237
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  • 7. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
    Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabedian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Juppner H.
    Am J Hum Genet; 2006 Feb; 78(2):179-92. PubMed ID: 16358214
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  • 8. Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.
    Dhir G, Li D, Hakonarson H, Levine MA.
    Bone; 2017 Apr; 97():15-19. PubMed ID: 27939817
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  • 9. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
    Bergwitz C, Miyamoto KI.
    Pflugers Arch; 2019 Jan; 471(1):149-163. PubMed ID: 30109410
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  • 12. 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.
    J Clin Res Pediatr Endocrinol; 2018 Nov 29; 10(4):343-349. PubMed ID: 29809158
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  • 13. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
    Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM.
    Am J Hum Genet; 2006 Feb 29; 78(2):193-201. PubMed ID: 16358215
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  • 14. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
    Kremke B, Bergwitz C, Ahrens W, Schütt S, Schumacher M, Wagner V, Holterhus PM, Jüppner H, Hiort O.
    Exp Clin Endocrinol Diabetes; 2009 Feb 29; 117(2):49-56. PubMed ID: 18523928
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  • 16. Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.
    Ichikawa S, Tuchman S, Padgett LR, Gray AK, Baluarte HJ, Econs MJ.
    Bone; 2014 Feb 29; 59():53-6. PubMed ID: 24176905
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  • 17. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
    Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C.
    J Am Soc Nephrol; 2014 Oct 29; 25(10):2366-75. PubMed ID: 24700880
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  • 20. Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
    Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA.
    J Clin Endocrinol Metab; 2020 Jul 01; 105(7):2392-400. PubMed ID: 32311027
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