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Journal Abstract Search

249 related items for PubMed ID: 22865906

  • 1. 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; 97(10):E1978-86. PubMed ID: 22865906
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  • 2. Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development.
    Segawa H, Onitsuka A, Furutani J, Kaneko I, Aranami F, Matsumoto N, Tomoe Y, Kuwahata M, Ito M, Matsumoto M, Li M, Amizuka N, Miyamoto K.
    Am J Physiol Renal Physiol; 2009 Sep; 297(3):F671-8. PubMed ID: 19570882
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  • 5. 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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  • 8. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
    Bergwitz C, Miyamoto KI.
    Pflugers Arch; 2019 Jan 01; 471(1):149-163. PubMed ID: 30109410
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  • 9. Impaired urinary osteopontin excretion in Npt2a-/- mice.
    Caballero D, Li Y, Ponsetto J, Zhu C, Bergwitz C.
    Am J Physiol Renal Physiol; 2017 Jan 01; 312(1):F77-F83. PubMed ID: 27784695
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  • 10. 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
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  • 11. [Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets].
    Segawa H, Shiozaki Y, Minoshima S, Miyamoto K.
    Clin Calcium; 2013 Oct 01; 23(10):1445-50. PubMed ID: 24076642
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  • 12. Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation.
    Shah R, Rao S, Parikh R, Sophia T, Khalid H.
    Indian Pediatr; 2016 Sep 08; 53(9):829-830. PubMed ID: 27771652
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  • 18. Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights.
    Mihout F, Devuyst O, Bensman A, Brocheriou I, Ridel C, Wagner CA, Mohebbi N, Boffa JJ, Plaisier E, Ronco P.
    Nephrol Dial Transplant; 2014 Sep 08; 29 Suppl 4():iv113-6. PubMed ID: 25165176
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  • 19. Phosphaturic action of fibroblast growth factor 23 in Npt2 null mice.
    Tomoe Y, Segawa H, Shiozawa K, Kaneko I, Tominaga R, Hanabusa E, Aranami F, Furutani J, Kuwahara S, Tatsumi S, Matsumoto M, Ito M, Miyamoto K.
    Am J Physiol Renal Physiol; 2010 Jun 08; 298(6):F1341-50. PubMed ID: 20357029
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  • 20. 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 08; 97():15-19. PubMed ID: 27939817
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