222 related articles for article (PubMed ID: 31188746)
21. 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]
22. Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report.
Kang SJ; Lee R; Kim HS
Ann Pediatr Endocrinol Metab; 2019 Mar; 24(1):64-67. PubMed ID: 30943683
[TBL] [Abstract][Full Text] [Related]
23. Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)
Kaufmann M; Morse N; Molloy BJ; Cooper DP; Schlingmann KP; Molin A; Kottler ML; Gallagher JC; Armas L; Jones G
J Bone Miner Res; 2017 Jul; 32(7):1589-1596. PubMed ID: 28304097
[TBL] [Abstract][Full Text] [Related]
24. Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
Jobst-Schwan T; Pannes A; Schlingmann KP; Eckardt KU; Beck BB; Wiesener MS
Kidney Blood Press Res; 2015; 40(5):443-51. PubMed ID: 26304832
[TBL] [Abstract][Full Text] [Related]
25. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Rajagopal A; Braslavsky D; Lu JT; Kleppe S; Clément F; Cassinelli H; Liu DS; Liern JM; Vallejo G; Bergadá I; Gibbs RA; Campeau PM; Lee BH
J Clin Endocrinol Metab; 2014 Nov; 99(11):E2451-6. PubMed ID: 25050900
[TBL] [Abstract][Full Text] [Related]
26. Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.
Demir K; Yildiz M; Bahat H; Goldman M; Hassan N; Tzur S; Ofir A; Magen D
J Clin Endocrinol Metab; 2017 Dec; 102(12):4604-4614. PubMed ID: 29029121
[TBL] [Abstract][Full Text] [Related]
27. CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.
Madsen JOB; Sauer S; Beck B; Johannesen J
J Clin Res Pediatr Endocrinol; 2018 Mar; 10(1):83-86. PubMed ID: 28874334
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. 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]
30. Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
Hureaux M; Molin A; Jay N; Saliou AH; Spaggiari E; Salomon R; Benachi A; Vargas-Poussou R; Heidet L
Pediatr Nephrol; 2018 Oct; 33(10):1723-1729. PubMed ID: 29959532
[TBL] [Abstract][Full Text] [Related]
31. Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.
Fencl F; Bláhová K; Schlingmann KP; Konrad M; Seeman T
Eur J Pediatr; 2013 Jan; 172(1):45-9. PubMed ID: 23001465
[TBL] [Abstract][Full Text] [Related]
32. Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review.
Tray KA; Laut J; Saidi A
Conn Med; 2015; 79(10):593-7. PubMed ID: 26731879
[TBL] [Abstract][Full Text] [Related]
33. Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
Wagner CA; Rubio-Aliaga I; Hernando N
Pediatr Nephrol; 2019 Apr; 34(4):549-559. PubMed ID: 29275531
[TBL] [Abstract][Full Text] [Related]
34. Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report.
Mirea AM; Pop RM; Căinap SS; Trifa AP
Eur J Med Genet; 2020 Dec; 63(12):104100. PubMed ID: 33186763
[TBL] [Abstract][Full Text] [Related]
35. Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Kenny J; Lees MM; Drury S; Barnicoat A; Van't Hoff W; Palmer R; Morrogh D; Waters JJ; Lench NJ; Bockenhauer D
Pediatr Nephrol; 2011 Aug; 26(8):1331-4. PubMed ID: 21597970
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. 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]
38. Vitamin D and Diseases of Mineral Homeostasis: A
St-Arnaud R; Arabian A; Kavame D; Kaufmann M; Jones G
Nutrients; 2022 Aug; 14(15):. PubMed ID: 35956396
[TBL] [Abstract][Full Text] [Related]
39. Hypercalcemia due to CYP24A1 mutations: a systematic descriptive review.
Cappellani D; Brancatella A; Morganti R; Borsari S; Baldinotti F; Caligo MA; Kaufmann M; Jones G; Marcocci C; Cetani F
Eur J Endocrinol; 2021 Dec; 186(2):137-149. PubMed ID: 34735369
[TBL] [Abstract][Full Text] [Related]
40. Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
Fearn A; Allison B; Rice SJ; Edwards N; Halbritter J; Bourgeois S; Pastor-Arroyo EM; Hildebrandt F; Tasic V; Wagner CA; Hernando N; Sayer JA; Werner A
Physiol Rep; 2018 Jun; 6(12):e13715. PubMed ID: 29924459
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
