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10.1002/ajmg.a.33832 http://scihub22266oqcxt.onion/10.1002/ajmg.a.33832 C4777326!4777326!21344632     free     free     free Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 247.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2011 ; ä (3): 626-33 Nephropedia Template TP {{tp|p=21344632|t=2011. Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis?Identification of a Novel SLC34A3/NaPi-IIc Mutation |pdf=|usr=}}{{21344632}} gab.com Text Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis Identification of a Novel SLC34A3/NaPi-IIc Mutation JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=21344632 #FOAvip Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient?s mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2?6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. Twit Text FOAVip Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis Identification of a Novel SLC34A3/NaPi-IIc Mutation ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=21344632 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21344632 #FOAvip English Wikipedia <ref>{{Cite pmid|21344632}}</ref> Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis?Identification of a Novel SLC34A3/NaPi-IIc Mutation #MMPMID21344632 Phulwani P; Bergwitz C; Jaureguiberry G; Rasoulpour M; Estrada E Am J Med Genet A 2011[Mar]; ä (3): 626-33 PMID21344632show ga Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is characterized by rickets, hyperphosphaturia, hypophosphatemia, elevated 1,25-dihydroxyvitamin-D, increased gastrointestinal calcium absorption and hypercalciuria. Serum calcium, 25-hydroxyvitamin-D and PTH levels are normal. Here we describe a boy with HHRH, nephrolithiasis, and compound heterozygosity for one previously described mutation (g.4225_50del) and a novel splice mutation (g.1226G>A) in SLC34A3, the gene encoding the renal sodium-phosphate co-transporter NaPi-IIc. The patient?s mother and grandmother are carriers of g.4225_50del, and both have a history of nephrolithiasis associated with hypercalciuria and elevated 1,25-dihydroxyvitamin-D. His three siblings (2?6 years old), who are also carriers of g.4225_50del, have hypercalciuria but so far their renal ultrasounds are normal. Thus, SLC34A3/NaPi-IIc mutations appear to be associated with variable phenotypic changes at presentation, which can include recurrent nephrolithiasis. äHereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolith(epmc).pdf DeepDyve Pubget Overpricing