 |
|
Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report
Seok Jin Kang, Rosie Lee, Heung Sik Kim
Ann Pediatr Endocrinol Metab. 2019;24(1):64-67. Published online 2019 Mar 31 DOI: https://doi.org/10.6065/apem.2019.24.1.64
|
|
Citations to this article as recorded by
 Effects of SLC34A3 or SLC34A1 variants on calcium and phosphorus homeostasis
Hamza Naciri Bennani, Imane Chtioui, Camille Allirot, Rim Somrani, Thomas Jouve, Lionel Rostaing, Guylhene Bourdat-Michel
Pediatric Nephrology.2025; 40(1): 117. CrossRef The molecular sociology of NHERF1 PDZ proteins controlling renal hormone-regulated phosphate transport
Peter A. Friedman, Tatyana Mamonova
Bioscience Reports.2024;[Epub] CrossRef Genetic susceptibility of urolithiasis: comprehensive results from genome-wide analysis
Lede Lin, Yucheng Ma, Zhen Li, Linhu Liu, Qibo Hu, Liang Zhou
World Journal of Urology.2024;[Epub] CrossRef The Intricacies of Renal Phosphate Reabsorption—An Overview
Valerie Walker
International Journal of Molecular Sciences.2024; 25(9): 4684. CrossRef Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport and cause congenital hypophosphatemia
W. Bruce Sneddon, Peter A. Friedman, Tatyana Mamonova
Biochemical Journal.2023; 480(9): 685. CrossRef Research progress on renal calculus associate with inborn error of metabolism
Yuanming SONG, Changyong ZHAO, Daobing LI
Journal of Zhejiang University (Medical Sciences).2023; 52(2): 169. CrossRef The genetics of kidney stone disease and nephrocalcinosis
Prince Singh, Peter C. Harris, David J. Sas, John C. Lieske
Nature Reviews Nephrology.2022; 18(4): 224. CrossRef Idiopathic infantile hypercalcemia with severe nephrocalcinosis, associated with CYP24A1 mutations: a case report
Jeesun Yoo, Hee Gyung Kang, Yo Han Ahn
Childhood Kidney Diseases.2022; 26(1): 63. CrossRef Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology
Mathieu Lemaire
American Journal of Physiology-Renal Physiology.2021; 320(2): F145. CrossRef Noncanonical Sequences Involving NHERF1 Interaction with NPT2A Govern Hormone-Regulated Phosphate Transport: Binding Outside the Box
Tatyana Mamonova, Peter A. Friedman
International Journal of Molecular Sciences.2021; 22(3): 1087. CrossRef Multisite NHERF1 phosphorylation controls GRK6A regulation of hormone-sensitive phosphate transport
Maria Vistrup-Parry, W. Bruce Sneddon, Sofie Bach, Kristian Strømgaard, Peter A. Friedman, Tatyana Mamonova
Journal of Biological Chemistry.2021; 296: 100473. CrossRef Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH)
Maria De Bonis, Elisa De Paolis, Maria Elisabetta Onori, Giorgia Mazzuccato, Antonio Gatto, Pietro Ferrara, Pietro Manuel Ferraro, Andrea Urbani, Angelo Minucci
Molecular Biology Reports.2021; 48(4): 3303. CrossRef Mild Idiopathic Infantile Hypercalcemia—Part 1: Biochemical and Genetic Findings
Nina Lenherr-Taube, Edwin J Young, Michelle Furman, Yesmino Elia, Esther Assor, David Chitayat, Tami Uster, Susan Kirwin, Katherine Robbins, Kathleen M B Vinette, Alan Daneman, Christian R Marshall, Carol Collins, Kenneth Thummel, Etienne Sochett, Michael
The Journal of Clinical Endocrinology & Metabolism.2021; 106(10): 2915. CrossRef Calcium and Vitamin D Supplementation and Their Association with Kidney Stone Disease: A Narrative Review
Matteo Bargagli, Pietro Manuel Ferraro, Matteo Vittori, Gianmarco Lombardi, Giovanni Gambaro, Bhaskar Somani
Nutrients.2021; 13(12): 4363. CrossRef Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition
Fay J. Dickson, John A. Sayer
International Journal of Molecular Sciences.2020; 21(1): 369. CrossRef
|