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A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome.
Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, Selig S, Lapointe JY, Zelikovic I, Skorecki K. Magen D, et al. Among authors: tieder m. N Engl J Med. 2010 Mar 25;362(12):1102-9. doi: 10.1056/NEJMoa0905647. N Engl J Med. 2010. PMID: 20335586 Free article.
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. Bergwitz C, et al. Among authors: tieder m. Am J Hum Genet. 2006 Feb;78(2):179-92. doi: 10.1086/499409. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358214 Free PMC article.
Hereditary hypophosphatemic rickets with hypercalciuria.
Tieder M, Modai D, Samuel R, Arie R, Halabe A, Bab I, Gabizon D, Liberman UA. Tieder M, et al. N Engl J Med. 1985 Mar 7;312(10):611-7. doi: 10.1056/NEJM198503073121003. N Engl J Med. 1985. PMID: 2983203
44 results