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Journal Abstract Search

140 related items for PubMed ID: 38642991

  • 1. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.
    Schinke T, Oheim R.
    Kidney Int; 2024 May; 105(5):927-929. PubMed ID: 38642991
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
    Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C.
    Kidney Int; 2024 May; 105(5):1058-1076. PubMed ID: 38364990
    [Abstract] [Full Text] [Related]

  • 6. Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.
    Christensen S, Tebben PJ, Sas D, Creo AL.
    Horm Res Paediatr; 2021 May; 94(9-10):374-389. PubMed ID: 34666334
    [Abstract] [Full Text] [Related]

  • 7. Clinical Spectrum of Hereditary Hypophosphatemic Rickets With Hypercalciuria (HHRH).
    Stürznickel J, Heider F, Delsmann A, Gödel M, Grünhagen J, Huber TB, Kornak U, Amling M, Oheim R.
    J Bone Miner Res; 2022 Aug; 37(8):1580-1591. PubMed ID: 35689455
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 9. SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.
    Hasani-Ranjbar S, Amoli MM, Ebrahim-Habibi A, Dehghan E, Soltani A, Amiri P, Larijani B.
    J Clin Res Pediatr Endocrinol; 2012 Jun; 4(2):89-93. PubMed ID: 22672866
    [Abstract] [Full Text] [Related]

  • 10. 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; 78(2):193-201. PubMed ID: 16358215
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 13. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
    Tencza AL, Ichikawa S, Dang A, Kenagy D, McCarthy E, Econs MJ, Levine MA.
    J Clin Endocrinol Metab; 2009 Nov 29; 94(11):4433-8. PubMed ID: 19820004
    [Abstract] [Full Text] [Related]

  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. 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 01; 59():53-6. PubMed ID: 24176905
    [Abstract] [Full Text] [Related]

  • 16. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
    Phulwani P, Bergwitz C, Jaureguiberry G, Rasoulpour M, Estrada E.
    Am J Med Genet A; 2011 Mar 01; 155A(3):626-33. PubMed ID: 21344632
    [Abstract] [Full Text] [Related]

  • 17. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.
    Jaureguiberry G, Carpenter TO, Forman S, Jüppner H, Bergwitz C.
    Am J Physiol Renal Physiol; 2008 Aug 01; 295(2):F371-9. PubMed ID: 18480181
    [Abstract] [Full Text] [Related]

  • 18. Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.
    Yamamoto T, Michigami T, Aranami F, Segawa H, Yoh K, Nakajima S, Miyamoto K, Ozono K.
    J Bone Miner Metab; 2007 Aug 01; 25(6):407-13. PubMed ID: 17968493
    [Abstract] [Full Text] [Related]

  • 19. Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.
    Mejia-Gaviria N, Gil-Peña H, Coto E, Pérez-Menéndez TM, Santos F.
    Orphanet J Rare Dis; 2010 Jan 14; 5():1. PubMed ID: 20074341
    [Abstract] [Full Text] [Related]

  • 20. Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
    Schönauer R, Petzold F, Lucinescu W, Seidel A, Müller L, Neuber S, Bergmann C, Sayer JA, Werner A, Halbritter J.
    Urolithiasis; 2019 Dec 14; 47(6):511-519. PubMed ID: 30798342
    [Abstract] [Full Text] [Related]

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