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Results: 1 to 20 of 218

1.

Hereditary hypophosphatemic rickets with hypercalciuria: case report.

Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R.

Nefrologia. 2012 Jul 17;32(4):529-34. doi: 10.3265/Nefrologia.pre2012.Apr.11321. English, Spanish.

PMID:
22806288
[PubMed - indexed for MEDLINE]
Free Article
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. doi: 10.1016/j.bone.2013.11.008. Epub 2013 Nov 16.

PMID:
24246249
[PubMed - indexed for MEDLINE]
3.

Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.

Kremke B, Bergwitz C, Ahrens W, Schütt S, Schumacher M, Wagner V, Holterhus PM, Jüppner H, Hiort O.

Exp Clin Endocrinol Diabetes. 2009 Feb;117(2):49-56. doi: 10.1055/s-2008-1076716. Epub 2008 Jun 3.

PMID:
18523928
[PubMed - indexed for MEDLINE]
4.

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. Epub 2005 Dec 9.

PMID:
16358215
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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. doi: 10.1186/1750-1172-5-1.

PMID:
20074341
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

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. doi: 10.4274/jcrpe.601.

PMID:
22672866
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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;94(11):4433-8. doi: 10.1210/jc.2009-1535. Epub 2009 Oct 9.

PMID:
19820004
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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. Epub 2005 Dec 9.

PMID:
16358214
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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;25(6):407-13. Epub 2007 Oct 25.

PMID:
17968493
[PubMed - indexed for MEDLINE]
10.

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;59:53-6. doi: 10.1016/j.bone.2013.10.018. Epub 2013 Oct 29.

PMID:
24176905
[PubMed - indexed for MEDLINE]
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. doi: 10.1016/j.bone.2012.02.015. Epub 2012 Feb 24. Erratum in: Bone. 2012 May;50(5):1206.

PMID:
22387237
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

[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;23(10):1445-50. doi: CliCa131014451450. Review. Japanese.

PMID:
24076642
[PubMed - indexed for MEDLINE]
13.

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;155A(3):626-33. doi: 10.1002/ajmg.a.33832. Epub 2011 Feb 22.

PMID:
21344632
[PubMed - indexed for MEDLINE]
14.

Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.

Haito-Sugino S, Ito M, Ohi A, Shiozaki Y, Kangawa N, Nishiyama T, Aranami F, Sasaki S, Mori A, Kido S, Tatsumi S, Segawa H, Miyamoto K.

Am J Physiol Cell Physiol. 2012 May 1;302(9):C1316-30. doi: 10.1152/ajpcell.00314.2011. Epub 2011 Dec 7.

PMID:
22159077
[PubMed - indexed for MEDLINE]
Free Article
15.

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. doi: 10.1152/ajprenal.00156.2009. Epub 2009 Jul 1.

PMID:
19570882
[PubMed - indexed for MEDLINE]
Free Article
16.

Renal-specific and inducible depletion of NaPi-IIc/Slc34a3, the cotransporter mutated in HHRH, does not affect phosphate or calcium homeostasis in mice.

Myakala K, Motta S, Murer H, Wagner CA, Koesters R, Biber J, Hernando N.

Am J Physiol Renal Physiol. 2014 Apr 15;306(8):F833-43. doi: 10.1152/ajprenal.00133.2013. Epub 2014 Feb 19.

PMID:
24553430
[PubMed - indexed for MEDLINE]
17.

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

Ichikawa S, Sorenson AH, Imel EA, Friedman NE, Gertner JM, Econs MJ.

J Clin Endocrinol Metab. 2006 Oct;91(10):4022-7. Epub 2006 Jul 18.

PMID:
16849419
[PubMed - indexed for MEDLINE]
18.

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. doi: 10.1210/jc.2012-1279. Epub 2012 Aug 3.

PMID:
22865906
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Healing of bone disease in X-linked hypophosphatemic rickets/osteomalacia. Induction and maintenance with phosphorus and calcitriol.

Harrell RM, Lyles KW, Harrelson JM, Friedman NE, Drezner MK.

J Clin Invest. 1985 Jun;75(6):1858-68.

PMID:
3839245
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

"Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect.

Tieder M, Modai D, Shaked U, Samuel R, Arie R, Halabe A, Maor J, Weissgarten J, Averbukh Z, Cohen N, et al.

N Engl J Med. 1987 Jan 15;316(3):125-9.

PMID:
3796683
[PubMed - indexed for MEDLINE]

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