Related references
Note: Only part of the references are listed.Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene
Varda Levy-Litan et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
Bettina Lorenz-Depiereux et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
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 et al.
EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2009)
Hypophosphatemic Rickets with Hypercalciuria due to Mutation in SLC34A3/Type IIc Sodium-Phosphate Cotransporter: Presentation as Hypercalciuria and Nephrolithiasis
Amanda L. Tencza et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2009)
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 et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2008)
Phosphate transporters: a tale of two solute carrier families
Leila V. Virkki et al.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2007)
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis
Bettina Lorenz-Depiereux et al.
NATURE GENETICS (2006)
Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism
Jian Q. Feng et al.
NATURE GENETICS (2006)
Intronic deletions in the SLC34A3 gene cause hereditary Hypophosphatemic rickets with hypercalciuria
Shoji Ichikawa et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
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
C Bergwitz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3
B Lorenz-Depiereux et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Normal urinary calcium/creatinine ratios in African-American and Caucasian children
NP So et al.
PEDIATRIC NEPHROLOGY (2001)