270 related articles for article (PubMed ID: 31789978)
1. Inherited conditions resulting in nephrolithiasis.
Hoppe B; Martin-Higueras C
Curr Opin Pediatr; 2020 Apr; 32(2):273-283. PubMed ID: 31789978
[TBL] [Abstract][Full Text] [Related]
2. A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass.
Ferraro PM; Minucci A; Primiano A; De Paolis E; Gervasoni J; Persichilli S; Naticchia A; Capoluongo E; Gambaro G
Urolithiasis; 2017 Jun; 45(3):291-294. PubMed ID: 27639704
[TBL] [Abstract][Full Text] [Related]
3. Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
Figueres ML; Linglart A; Bienaime F; Allain-Launay E; Roussey-Kessler G; Ryckewaert A; Kottler ML; Hourmant M
Am J Kidney Dis; 2015 Jan; 65(1):122-6. PubMed ID: 25446019
[TBL] [Abstract][Full Text] [Related]
4. Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.
Dinour D; Beckerman P; Ganon L; Tordjman K; Eisenstein Z; Holtzman EJ
J Urol; 2013 Aug; 190(2):552-7. PubMed ID: 23470222
[TBL] [Abstract][Full Text] [Related]
5. Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
Wang Q; Chen JJ; Wei LY; Ding Y; Liu M; Li WJ; Su C; Gong CX
Orphanet J Rare Dis; 2024 Mar; 19(1):126. PubMed ID: 38504242
[TBL] [Abstract][Full Text] [Related]
6. Novel CYP24A1 Mutation in a Young Male Patient with Nephrolithiasis: Case Report.
Jiráčková J; Hyšpler R; Alkanderi S; Pavlíková L; Palicka V; Sayer JA
Kidney Blood Press Res; 2019; 44(4):870-877. PubMed ID: 31288237
[TBL] [Abstract][Full Text] [Related]
7. [A young girl with recurrent calculosis and hypercalcemia].
Di Maio F; Vittori M; Bassi P; Fulignati P; D'Alonzo S; Ferraro PM
G Ital Nefrol; 2018 May; 35(3):. PubMed ID: 29786188
[TBL] [Abstract][Full Text] [Related]
8. Hereditary causes of kidney stones and chronic kidney disease.
Edvardsson VO; Goldfarb DS; Lieske JC; Beara-Lasic L; Anglani F; Milliner DS; Palsson R
Pediatr Nephrol; 2013 Oct; 28(10):1923-42. PubMed ID: 23334384
[TBL] [Abstract][Full Text] [Related]
9. AN INFANT WITH IDIOPATHIC HYPERCALCIURIA AND NEPHROLITHIASIS ASSOCIATED WITH CYP24A1 ENZYME POLYMORPHISM: A CASE REPORT.
Trutin I; Škorić I
Acta Clin Croat; 2022 Feb; 60(3):544-547. PubMed ID: 35282483
[TBL] [Abstract][Full Text] [Related]
10. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis.
Nesterova G; Malicdan MC; Yasuda K; Sakaki T; Vilboux T; Ciccone C; Horst R; Huang Y; Golas G; Introne W; Huizing M; Adams D; Boerkoel CF; Collins MT; Gahl WA
Clin J Am Soc Nephrol; 2013 Apr; 8(4):649-57. PubMed ID: 23293122
[TBL] [Abstract][Full Text] [Related]
11. Overlapping Phenotypes Associated With
Molin A; Lemoine S; Kaufmann M; Breton P; Nowoczyn M; Ballandonne C; Coudray N; Mittre H; Richard N; Ryckwaert A; Lavillaureix A; Jones G; Bacchetta J; Kottler ML
Front Endocrinol (Lausanne); 2021; 12():736240. PubMed ID: 34721296
[TBL] [Abstract][Full Text] [Related]
12. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.
Cools M; Goemaere S; Baetens D; Raes A; Desloovere A; Kaufman JM; De Schepper J; Jans I; Vanderschueren D; Billen J; De Baere E; Fiers T; Bouillon R
Bone; 2015 Dec; 81():89-96. PubMed ID: 26117226
[TBL] [Abstract][Full Text] [Related]
13. Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ; Loh NY; Thakker RV
Pediatr Nephrol; 2009 Dec; 24(12):2321-32. PubMed ID: 18446382
[TBL] [Abstract][Full Text] [Related]
14. [Inherited monogenic kidney stone diseases: recent diagnostic and therapeutic advances].
Jungers P; Joly D; Blanchard A; Courbebaisse M; Knebelmann B; Daudon M
Nephrol Ther; 2008 Jul; 4(4):231-55. PubMed ID: 18499551
[TBL] [Abstract][Full Text] [Related]
15. Research progress on renal calculus associate with inborn error of metabolism.
Song Y; Zhao C; Li D
Zhejiang Da Xue Xue Bao Yi Xue Ban; 2023 Apr; 52(2):169-177. PubMed ID: 37283101
[TBL] [Abstract][Full Text] [Related]
16. [New Mutation of CYP24A1 in a Case of Idiopathic Infantile Hypercalcemia Diagnosed in Adulthood].
Zanchelli F; Giudicissi A; Neri L; Sgarlato V; Bruno PF; Ruggeri M; Signorotti S; Vetrano D; Buscaroli A
G Ital Nefrol; 2023 Dec; 40(6):. PubMed ID: 38156538
[TBL] [Abstract][Full Text] [Related]
17. CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.
Hawkes CP; Li D; Hakonarson H; Meyers KE; Thummel KE; Levine MA
J Clin Endocrinol Metab; 2017 May; 102(5):1440-1446. PubMed ID: 28324001
[TBL] [Abstract][Full Text] [Related]
18. Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
Molin A; Nowoczyn M; Coudray N; Ballandone C; Abéguilé G; Mittre H; Richard N; Eckart P; Castanet M; Kottler ML
Eur J Med Genet; 2019 Nov; 62(11):103577. PubMed ID: 30423445
[TBL] [Abstract][Full Text] [Related]
19. Genetic Diseases of Vitamin D Metabolizing Enzymes.
Jones G; Kottler ML; Schlingmann KP
Endocrinol Metab Clin North Am; 2017 Dec; 46(4):1095-1117. PubMed ID: 29080636
[TBL] [Abstract][Full Text] [Related]
20. Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.
Dickson FJ; Sayer JA
Int J Mol Sci; 2020 Jan; 21(1):. PubMed ID: 31935940
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
