Detalhe da pesquisa
1.
An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Kidney Int
; 105(5): 1058-1076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38364990
2.
Hereditary Hypophosphatemic Rickets with Hypercalciuria Presenting with Enthesopathy, Renal Cysts, and High Serum c-Terminal FGF23: Single-Center Experience and Systematic Review.
Calcif Tissue Int
; 114(2): 137-146, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37981601
3.
Multifocal heterotopic ossification in a man with germline variants of LIM Mineralization Protein-1 (LMP-1).
Am J Med Genet A
; 191(8): 2164-2174, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37218523
4.
Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Pflugers Arch
; 471(1): 149-163, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30109410
5.
Targeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia.
N Engl J Med
; 383(14): 1387-1389, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905668
6.
Impaired urinary osteopontin excretion in Npt2a-/- mice.
Am J Physiol Renal Physiol
; 312(1): F77-F83, 2017 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784695
7.
Hypophosphatemia promotes lower rates of muscle ATP synthesis.
FASEB J
; 30(10): 3378-3387, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27338702
8.
Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.
J Am Soc Nephrol
; 25(10): 2366-75, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24700880
9.
Acute down-regulation of sodium-dependent phosphate transporter NPT2a involves predominantly the cAMP/PKA pathway as revealed by signaling-selective parathyroid hormone analogs.
J Biol Chem
; 286(2): 1618-26, 2011 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-21047792
10.
Regulation of phosphate homeostasis by PTH, vitamin D, and FGF23.
Annu Rev Med
; 61: 91-104, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20059333
11.
Dietary phosphate modifies lifespan in Drosophila.
Nephrol Dial Transplant
; 27(9): 3399-406, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22942172
12.
FGF23 and syndromes of abnormal renal phosphate handling.
Adv Exp Med Biol
; 728: 41-64, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22396161
13.
An integrative approach to ortholog prediction for disease-focused and other functional studies.
BMC Bioinformatics
; 12: 357, 2011 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21880147
14.
Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
Am J Med Genet A
; 155A(3): 626-33, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21344632
15.
Genetic evidence of serum phosphate-independent functions of FGF-23 on bone.
PLoS Genet
; 4(8): e1000154, 2008 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18688277
16.
FGF23 signalling and physiology.
J Mol Endocrinol
; 66(2): R23-R32, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33338030
17.
Different elemental infant formulas show equivalent phosphorus and calcium bioavailability in healthy volunteers.
Nutr Res
; 85: 71-83, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33450668
18.
Phosphorus bioaccessibility measured in four amino acid-based formulas using in-vitro batch digestion translates well into phosphorus bioavailability in mice.
Nutrition
; 89: 111291, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111672
19.
Importance of Dietary Phosphorus for Bone Metabolism and Healthy Aging.
Nutrients
; 12(10)2020 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33007883
20.
Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone.
Ther Adv Musculoskelet Dis
; 12: 1759720X20912862, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32963591