Associated Papers
Family analysis and literature study of hereditary hypophosphatemic rickets with hypercalciuria.
Wang L et al.
Bmc Pediatrics, 2024
The Molecular Basis of Calcium and Phosphorus Inherited Metabolic Disorders.
Papadopoulou A et al.
Genes, 2021
Variable Clinical Presentation of Children with Hereditary Hypophosphatemic Rickets with Hypercalciuria: A Case Series and Review of the Literature.
Christensen S et al.
Hormone Research in Paediatrics, 2021
Hereditary Hypophosphatemic Rickets with Hypercalciuria (HHRH) Presenting with Genu Valgum Deformity: Treatment with Phosphate Supplementation and Surgical Correction.
Colazo JM et al.
Case Reports in Endocrinology, 2020
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C et al.
Pflugers Archiv : European Journal of Physiology, 2019
Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells.
Shiozaki Y et al.
The Journal of Medical Investigation : Jmi, 2015
A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
Chi Y et al.
Bone, 2014
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.
Haito-Sugino S et al.
American Journal of Physiology. Cell Physiology, 2012
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.
Jaureguiberry G et al.
American Journal of Physiology. Renal Physiology, 2008
New aspect of renal phosphate reabsorption: the type IIc sodium-dependent phosphate transporter.
Miyamoto K et al.
American Journal of Nephrology, 2007
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 et al.
American Journal of Human Genetics, 2006
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW.
Bhadada SK et al.
Aace Clinical Case Reports, 0
Select a paper to view details