| scholarly article | Q13442814 |
| P356 | DOI | 10.1097/MOP.0000000000000064 |
| P8608 | Fatcat ID | release_ioh43zb465emlosmwao3fnm6d4 |
| P932 | PMC publication ID | 4031235 |
| P698 | PubMed publication ID | 24553630 |
| P2093 | author name string | Jyothsna Gattineni | |
| P2860 | cites work | 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 | Q24299058 |
| Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation | Q24315110 | ||
| Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1 | Q24316434 | ||
| Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3. | Q24540520 | ||
| Duodenal calcium absorption in vitamin D receptor-knockout mice: functional and molecular aspects | Q24555101 | ||
| Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations | Q24648139 | ||
| Catabolic and anabolic actions of parathyroid hormone on the skeleton | Q26828873 | ||
| Genetic disorders of phosphate regulation | Q27022049 | ||
| Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis | Q28260847 | ||
| Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy | Q28296302 | ||
| A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia | Q28299144 | ||
| Paternal uniparental isodisomy of chromosome 20q--and the resulting changes in GNAS1 methylation--as a plausible cause of pseudohypoparathyroidism | Q28362180 | ||
| Modulation of renal Ca2+ transport protein genes by dietary Ca2+ and 1,25-dihydroxyvitamin D3 in 25-hydroxyvitamin D3-1alpha-hydroxylase knockout mice | Q28512140 | ||
| Anti-FGF-23 neutralizing antibodies ameliorate muscle weakness and decreased spontaneous movement of Hyp mice | Q46295463 | ||
| Acute phosphate nephropathy following oral sodium phosphate bowel purgative: an underrecognized cause of chronic renal failure | Q46726693 | ||
| Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia | Q47871507 | ||
| Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations | Q50906609 | ||
| DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. | Q54943458 | ||
| Diagnosis of DiGeorge and Williams syndromes using FISH analysis of peripheral blood smears | Q58193953 | ||
| End-organ resistance to 1,25-dihydroxycholecalciferol | Q72420438 | ||
| Autosomal dominant hypophosphatemic rickets/osteomalacia: clinical characterization of a novel renal phosphate-wasting disorder | Q73047856 | ||
| Idiopathic hypercalcaemia in infants | Q73208515 | ||
| Multiple endocrine neoplasias | Q73875191 | ||
| Hypoparathyroidism | Q84729411 | ||
| Cloning and characterization of an extracellular Ca(2+)-sensing receptor from bovine parathyroid | Q29614810 | ||
| Imprinting in Albright's hereditary osteodystrophy | Q33594945 | ||
| Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene | Q33645954 | ||
| Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study | Q33679532 | ||
| Calcium transport in the kidney | Q33762942 | ||
| FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1. | Q34017992 | ||
| Klotho: a novel phosphaturic substance acting as an autocrine enzyme in the renal proximal tubule | Q34072230 | ||
| Hyperparathyroid and hypoparathyroid disorders | Q34105268 | ||
| A loss-of-function mutation in NaPi-IIa and renal Fanconi's syndrome | Q34106568 | ||
| Pathogenesis of hereditary vitamin-D-dependent rickets. An inborn error of vitamin D metabolism involving defective conversion of 25-hydroxyvitamin D to 1 alpha,25-dihydroxyvitamin D. | Q34207635 | ||
| Hypercalcemia in children and adolescents. | Q34255777 | ||
| A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor | Q34397950 | ||
| Activating mutations of the stimulatory G protein in the McCune-Albright syndrome | Q34981177 | ||
| Serum phosphate abnormalities in the emergency department | Q35024713 | ||
| Mechanisms of intestinal calcium absorption | Q35042228 | ||
| A clinician's guide to X-linked hypophosphatemia | Q35167526 | ||
| Ionized calcium in normal serum, ultrafiltrates, and whole blood determined by ion-exchange electrodes | Q35574775 | ||
| Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism. | Q35728669 | ||
| A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis | Q35925637 | ||
| Calcium absorption across epithelia | Q35993306 | ||
| Variable and tissue-specific hormone resistance in heterotrimeric Gs protein alpha-subunit (Gsalpha) knockout mice is due to tissue-specific imprinting of the gsalpha gene | Q36214949 | ||
| A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism | Q36491105 | ||
| Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23. | Q36649088 | ||
| Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets | Q36662050 | ||
| The renal excretion of calcium: a review of micropuncture data | Q36698105 | ||
| An update on the clinical and molecular characteristics of pseudohypoparathyroidism. | Q36921018 | ||
| Fibrous dysplasia, phosphate wasting and fibroblast growth factor 23. | Q36992878 | ||
| Vascular calcification in chronic renal failure: what have we learned from animal studies? | Q37830944 | ||
| The expanding family of hypophosphatemic syndromes | Q37968185 | ||
| Investigation and management of hypercalcaemia in children. | Q37996991 | ||
| Disorders of calcium and magnesium balance: a physiology-based approach | Q38059082 | ||
| An analysis of intestinal calcium transport across the rat intestine | Q39478382 | ||
| Vitamin-D-dependent rickets type II. Resistance of target organs to 1,25-dihydroxyvitamin D. | Q40141809 | ||
| Cellular calcium transport in renal epithelia: measurement, mechanisms, and regulation. | Q40453483 | ||
| An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. | Q40482177 | ||
| Calcium balance during human growth: evidence for threshold behavior | Q44120892 | ||
| Regulation of the epithelial Ca2+ channels in small intestine as studied by quantitative mRNA detection | Q44350266 | ||
| Mutations in CYP24A1 and idiopathic infantile hypercalcemia | Q45345347 | ||
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 215-222 | |
| P577 | publication date | 2014-04-01 | |
| P1433 | published in | Current Opinion in Pediatrics | Q15755798 |
| P1476 | title | Inherited disorders of calcium and phosphate metabolism | |
| P478 | volume | 26 |
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