An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)-Reference-Cited by-同舟云学术

An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)

Published:2024-05 Issue:5 Volume:105 Page:1058-1076
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Zhu Zewu^ORCID,Bo-Ran Ho Bryan,Chen Alyssa,Amrhein James,Apetrei Andreea,Carpenter Thomas Oliver,Lazaretti-Castro Marise,Colazo Juan Manuel,McCrystal Dahir Kathryn,Geßner Michaela,Gurevich Evgenia,Heier Cathrine Alsaker,Simmons Jill Hickman,Hunley Tracy Earl,Hoppe Bernd^ORCID,Jacobsen Christina,Kouri Anne,Ma Nina,Majumdar Sachin,Molin Arnaud^ORCID,Nokoff Natalie,Ott Susan M.,Peña Helena Gil,Santos Fernando,Tebben Peter,Topor Lisa Swartz,Deng Yanhong,Bergwitz Clemens

Funder

Central South University

NIH

Instituto de Salud Carlos III

European Commission

National Center for Advancing Translational Sciences

Publisher

Elsevier BV

Reference88 articles.

1. 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;Am J Hum Genet,2006

2. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3;Lorenz-Depiereux;Am J Hum Genet,2006

3. Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria;Ichikawa;J Clin Endocrinol Metab,2006

4. Variable clinical presentation of children with hereditary hypophosphatemic rickets with hypercalciuria: a case series and review of the literature;Christensen;Horm Res Paediatr,2021

5. "Idiopathic" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect;Tieder;N Engl J Med,1987

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis;Pediatric Nephrology;2024-09-10

2. SLC34 mutation: Personal experience with six families and literature review;2024-07-18

3. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine;Kidney International;2024-05