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Select item 91568621.

Guido Filler, Clara Schott, Fabio Rosario Salerno, Andrea Ens, Christopher William McIntyre, Maria Esther Díaz González de Ferris, Robert Stein

Bone Rep. 2022 Jun; 16: 101591. Published online 2022 May 18. doi: 10.1016/j.bonr.2022.101591

PMCID:: PMC9156862

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Select item 89781402.

Kidney Cysts in Hypophosphatemic Rickets With Hypercalciuria: A Case Series

Christian Hanna, Theodora A. Potretzke, Maroun Chedid, Laureano J. Rangel, Jennifer Arroyo, Dalia Zubidat, Peter J. Tebben, Andrea G. Cogal, Vicente E. Torres, Peter C. Harris, David J. Sas, John C. Lieske, Dawn S. Milliner, Fouad T. Chebib

Kidney Med. 2022 Mar; 4(3): 100419. Published online 2022 Jan 24. doi: 10.1016/j.xkme.2022.100419

PMCID:: PMC8978140

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Select item 74888843.

Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone

Daina Dreimane, Alyssa Chen, Clemens Bergwitz

Ther Adv Musculoskelet Dis. 2020; 12: 1759720X20912862. Published online 2020 Sep 12. doi: 10.1177/1759720X20912862

PMCID:: PMC7488884

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Select item 74483004.

Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria

Rebecca J Gordon, Dong Li, Daniel Doyle, Joshua Zaritsky, Michael A Levine

J Clin Endocrinol Metab. 2020 Jul; 105(7): 2392–2400. Published online 2020 Apr 20. doi: 10.1210/clinem/dgaa217

PMCID:: PMC7448300

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Select item 73681965.

Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction

Juan M. Colazo, Seth A. Reasoner, Ginger Holt, Marie C. M. Faugere, Kathryn M. Dahir

Case Rep Endocrinol. 2020; 2020: 1047327. Published online 2020 Jul 9. doi: 10.1155/2020/1047327

PMCID:: PMC7368196

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Select item 72822806.

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW

Sanjay K. Bhadada, Subbiah Sridhar, Vandana Dhiman, Karen Wong, Bruce Bennetts, Dorit Naot, Sangumani Jayaraman, Tim Cundy

AACE Clin Case Rep. 2020 May-Jun; 6(3): e105–e112. Published online 2020 May 11. doi: 10.4158/ACCR-2019-0456

PMCID:: PMC7282280

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Select item 66850967.

Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH

Andrew R Tang, Laura E Hinz, Aneal Khan, Gregory A Kline

Endocrinol Diabetes Metab Case Rep. 2019; 2019: 19-0058. Published online 2019 Jul 26. doi: 10.1530/EDM-19-0058

PMCID:: PMC6685096

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Select item 62803208.

SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

Shirin Hasani-Ranjbar, Hanieh-Sadat Ejtahed, Mahsa M. Amoli, Fatemeh Bitarafan, Mostafa Qorbani, Akbar Soltani, Bahareh Yarjoo

J Clin Res Pediatr Endocrinol. 2018 Dec; 10(4): 343–349. Published online 2018 Nov 29. doi: 10.4274/jcrpe.0057

PMCID:: PMC6280320

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Select item 53679689.

Late-Onset Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Due to Mutation of SLC34A3/NPT2c

Gauri Dhir, Dong Li, Hakon Hakonarson, Michael A. Levine

Bone. Author manuscript; available in PMC 2018 Apr 1.

Published in final edited form as: Bone. 2017 Apr; 97: 15–19. Published online 2016 Dec 7. doi: 10.1016/j.bone.2016.12.001

PMCID:: PMC5367968

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Select item 477740910.

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

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

Exp Clin Endocrinol Diabetes. Author manuscript; available in PMC 2016 Mar 3.

Published in final edited form as: Exp Clin Endocrinol Diabetes. 2009 Feb; 117(2): 49–56. Published online 2008 Jun 3. doi: 10.1055/s-2008-1076716

PMCID:: PMC4777409

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Select item 477732611.

Hereditary Hypophosphatemic Rickets With Hypercalciuria and Nephrolithiasis—Identification of a Novel SLC34A3/NaPi-IIc Mutation

Priya Phulwani, Clemens Bergwitz, Graciana Jaureguiberry, Majjid Rasoulpour, Elizabeth Estrada

Am J Med Genet A. Author manuscript; available in PMC 2016 Mar 3.

Published in final edited form as: Am J Med Genet A. 2011 Mar; 0(3): 626–633. Published online 2011 Feb 22. doi: 10.1002/ajmg.a.33832

PMCID:: PMC4777326

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Select item 390312812.

Intronic deletions in the SLC34A3 gene: A cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria

Shoji Ichikawa, Shamir Tuchman, Leah R. Padgett, Amie K. Gray, H. Jorge Baluarte, Michael J. Econs

Bone. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Bone. 2014 Feb; 59: 53–56. Published online 2013 Oct 29. doi: 10.1016/j.bone.2013.10.018

PMCID:: PMC3903128

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Select item 338677913.

SLC34A3 Intronic Deletion in a New Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

Shirin Hasani-Ranjbar, Mahsa M. Amoli, Azadeh Ebrahim-Habibi, Ehsan Dehghan, Akbar Soltani, Parvin Amiri, Bagher Larijani

J Clin Res Pediatr Endocrinol. 2012 Jun; 4(2): 89–93. Published online 2012 Jun 9. doi: 10.4274/jcrpe.601

PMCID:: PMC3386779

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Select item 332224914.

Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred

Y. Yu, S.R. Sanderson, M. Reyes, A. Sharma, N. Dunbar, T. Srivastava, H. Jüppner, C. Bergwitz

Bone. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Bone. 2012 May; 50(5): 1100–1106. Published online 2012 Feb 24. doi: 10.1016/j.bone.2012.02.015

Correction in:: volume 50 on page 1206

PMCID:: PMC3322249

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Select item 282137815.

Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report

Natalia Mejia-Gaviria, Helena Gil-Peña, Eliecer Coto, Teresa M Pérez-Menéndez, Fernando Santos

Orphanet J Rare Dis. 2010; 5: 1. Published online 2010 Jan 14. doi: 10.1186/1750-1172-5-1

PMCID:: PMC2821378

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Select item 277565016.

Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis

Amanda L. Tencza, Shoji Ichikawa, Anna Dang, David Kenagy, Edward McCarthy, Michael J. Econs, Michael A. Levine

J Clin Endocrinol Metab. 2009 Nov; 94(11): 4433–4438. Published online 2009 Oct 9. doi: 10.1210/jc.2009-1535

PMCID:: PMC2775650

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Select item 251918017.

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

Graciana Jaureguiberry, Thomas O. Carpenter, Stuart Forman, Harald Jüppner, Clemens Bergwitz

Am J Physiol Renal Physiol. 2008 Aug; 295(2): F371–F379. Published online 2008 May 14. doi: 10.1152/ajprenal.00090.2008

PMCID:: PMC2519180

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Select item 138022918.

Hereditary Hypophosphatemic Rickets with Hypercalciuria Is Caused by Mutations in the Sodium-Phosphate Cotransporter Gene SLC34A3

Bettina Lorenz-Depiereux, Anna Benet-Pages, Gertrud Eckstein, Yardena Tenenbaum-Rakover, Janine Wagenstaller, Dov Tiosano, Ruth Gershoni-Baruch, Norbert Albers, Peter Lichtner, Dirk Schnabel, Ze’ev Hochberg, Tim M. Strom

Am J Hum Genet. 2006 Feb; 78(2): 193–201. Published online 2005 Dec 9. doi: 10.1086/499410

PMCID:: PMC1380229

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Select item 138022819.

SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaP_i-IIc in Maintaining Phosphate Homeostasis

Clemens Bergwitz, Nicole M. Roslin, Martin Tieder, J C. Loredo-Osti, Murat Bastepe, Hilal Abu-Zahra, Danielle Frappier, Kelly Burkett, Thomas O. Carpenter, Donald Anderson, Michèle Garabédian, Isabelle Sermet, T. Mary Fujiwara, Kenneth Morgan, Harriet S. Tenenhouse, Harald Jüppner

Am J Hum Genet. 2006 Feb; 78(2): 179–192. Published online 2005 Dec 9. doi: 10.1086/499409

PMCID:: PMC1380228

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Select item 981064420.

Relationship between clinical phenotype and in vitro analysis of 13 NPT2c/SCL34A3 mutants

François Brazier, Marie Courbebaisse, Amandine David, David Bergerat, Christine Leroy, Marta Lindner, Gérard Maruani, Camille Saint Jacques, Emmanuel Letavernier, Marguerite Hureaux, Rosa Vargas-Poussou, Dominique Prié

Sci Rep. 2023; 13: 85. Published online 2023 Jan 3. doi: 10.1038/s41598-022-25995-5

PMCID:: PMC9810644

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