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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

195 related items for PubMed ID: 32866123

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  • 8. CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
    De Paolis E, Scaglione GL, De Bonis M, Minucci A, Capoluongo E.
    Clin Chem Lab Med; 2019 Oct 25; 57(11):1650-1667. PubMed ID: 31188746
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  • 12. Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report.
    Kang SJ, Lee R, Kim HS.
    Ann Pediatr Endocrinol Metab; 2019 Mar 25; 24(1):64-67. PubMed ID: 30943683
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  • 14. Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
    Figueres ML, Linglart A, Bienaime F, Allain-Launay E, Roussey-Kessler G, Ryckewaert A, Kottler ML, Hourmant M.
    Am J Kidney Dis; 2015 Jan 25; 65(1):122-6. PubMed ID: 25446019
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  • 16. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
    Rajagopal A, Braslavsky D, Lu JT, Kleppe S, Clément F, Cassinelli H, Liu DS, Liern JM, Vallejo G, Bergadá I, Gibbs RA, Campeau PM, Lee BH.
    J Clin Endocrinol Metab; 2014 Nov 25; 99(11):E2451-6. PubMed ID: 25050900
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  • 17. Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2.
    Verjans M, Hindryckx A, Rosier K, Devriendt K, Mekahli D, Bockenhauer D.
    Pediatr Nephrol; 2024 Oct 25; 39(10):2911-2913. PubMed ID: 38753084
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  • 19. Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
    Hureaux M, Molin A, Jay N, Saliou AH, Spaggiari E, Salomon R, Benachi A, Vargas-Poussou R, Heidet L.
    Pediatr Nephrol; 2018 Oct 25; 33(10):1723-1729. PubMed ID: 29959532
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