188 related articles for article (PubMed ID: 38665259)
1. Persistent hypercalcaemia associated with two pathogenic variants in the
Leszczyńska D; Szatko A; Latocha J; Kochman M; Duchnowska M; Wójcicka A; Misiorowski W; Zgliczyníski W; Glinicki P
Front Endocrinol (Lausanne); 2024; 15():1355916. PubMed ID: 38665259
[TBL] [Abstract][Full Text] [Related]
2. [CYP24A1 gene defect manifesting with gestational hypercalcemia].
Györkös A; Tőke J; Sohár G; Kovács M; Goldfinger J; Vajda G; Kalmár T; Tóth M
Orv Hetil; 2022 Jul; 163(31):1237-1242. PubMed ID: 35908214
[TBL] [Abstract][Full Text] [Related]
3. Analysis of vitamin D
Kowalska E; Rola R; Wójcik M; Łaszcz N; Płudowski P; Wierzbicka A; Janiec A; Książyk J; Halat P; Ciara E; Obrycki Ł; Pronicka E; Litwin M
J Steroid Biochem Mol Biol; 2021 Apr; 208():105824. PubMed ID: 33516786
[TBL] [Abstract][Full Text] [Related]
4. CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
Molin A; Baudoin R; Kaufmann M; Souberbielle JC; Ryckewaert A; Vantyghem MC; Eckart P; Bacchetta J; Deschenes G; Kesler-Roussey G; Coudray N; Richard N; Wraich M; Bonafiglia Q; Tiulpakov A; Jones G; Kottler ML
J Clin Endocrinol Metab; 2015 Oct; 100(10):E1343-52. PubMed ID: 26214117
[TBL] [Abstract][Full Text] [Related]
5. Hypervitaminosis D Secondary to a
Collins L; Boehm E; Luxford C; Clifton-Bligh R; Grill V
JBMR Plus; 2023 Sep; 7(9):e10788. PubMed ID: 37701149
[TBL] [Abstract][Full Text] [Related]
6. Intractable hypercalcaemia during pregnancy and the postpartum secondary to pathogenic variants in CYP24A1.
Arnold N; O'Toole V; Huynh T; Smith HC; Luxford C; Clifton-Bligh R; Eastman CJ
Endocrinol Diabetes Metab Case Rep; 2019 Nov; 2019():. PubMed ID: 31751313
[TBL] [Abstract][Full Text] [Related]
7. Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.
Colussi G; Ganon L; Penco S; De Ferrari ME; Ravera F; Querques M; Primignani P; Holtzman EJ; Dinour D
Nephrol Dial Transplant; 2014 Mar; 29(3):636-43. PubMed ID: 24235083
[TBL] [Abstract][Full Text] [Related]
8. Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the
Cappellani D; Brancatella A; Kaufmann M; Minucci A; Vignali E; Canale D; De Paolis E; Capoluongo E; Cetani F; Jones G; Marcocci C
Case Rep Endocrinol; 2019; 2019():4982621. PubMed ID: 31089432
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
Janiec A; Halat-Wolska P; Obrycki Ł; Ciara E; Wójcik M; Płudowski P; Wierzbicka A; Kowalska E; Książyk JB; Kułaga Z; Pronicka E; Litwin M
Nephrol Dial Transplant; 2021 Jul; 36(8):1484-1492. PubMed ID: 33099630
[TBL] [Abstract][Full Text] [Related]
11. Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
Brancatella A; Cappellani D; Kaufmann M; Borsari S; Piaggi P; Baldinotti F; Caligo MA; Jones G; Marcocci C; Cetani F
J Clin Endocrinol Metab; 2021 Mar; 106(3):708-717. PubMed ID: 33249478
[TBL] [Abstract][Full Text] [Related]
12. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations.
Carpenter TO
J Steroid Biochem Mol Biol; 2017 Oct; 173():337-340. PubMed ID: 28093352
[TBL] [Abstract][Full Text] [Related]
13. CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.
Rousseau-Nepton I; Jones G; Schlingmann K; Kaufmann M; Zuijdwijk CS; Khatchadourian K; Gupta IR; Pacaud D; Pinsk MN; Mokashi A; Nour MA; Alexander RT; Rodd CJ
Horm Res Paediatr; 2021; 94(3-4):124-132. PubMed ID: 34320495
[TBL] [Abstract][Full Text] [Related]
14. 1alpha(OH)D3 One-alpha-hydroxy-cholecalciferol--an active vitamin D analog. Clinical studies on prophylaxis and treatment of secondary hyperparathyroidism in uremic patients on chronic dialysis.
Brandi L
Dan Med Bull; 2008 Nov; 55(4):186-210. PubMed ID: 19232159
[TBL] [Abstract][Full Text] [Related]
15. Iatrogenic vitamin D toxicity in an infant--a case report and review of literature.
Ketha H; Wadams H; Lteif A; Singh RJ
J Steroid Biochem Mol Biol; 2015 Apr; 148():14-8. PubMed ID: 25636720
[TBL] [Abstract][Full Text] [Related]
16. A High-Calcium and Phosphate Rescue Diet and VDR-Expressing Transgenes Normalize Serum Vitamin D Metabolite Profiles and Renal Cyp27b1 and Cyp24a1 Expression in VDR Null Mice.
Kaufmann M; Lee SM; Pike JW; Jones G
Endocrinology; 2015 Dec; 156(12):4388-97. PubMed ID: 26441239
[TBL] [Abstract][Full Text] [Related]
17. [Hypercalcemia and inactive mutation of CYP24A1. Case-study and literature review].
Seidowsky A; Villain C; Vilaine E; Baudoin R; Tabarin A; Kottler ML; Cavalier É; Souberbielle JC; Massy ZA
Nephrol Ther; 2017 May; 13(3):146-153. PubMed ID: 28456639
[TBL] [Abstract][Full Text] [Related]
18. Hyperparathyroidism complicating CYP 24A1 mutations.
Loyer C; Leroy C; Molin A; Odou MF; Huglo D; Lion G; Ernst O; Hoffmann M; Porchet N; Carnaille B; Pattou F; Kottler ML; Vantyghem MC
Ann Endocrinol (Paris); 2016 Oct; 77(5):615-619. PubMed ID: 27378451
[TBL] [Abstract][Full Text] [Related]
19. LC-MS/MS for Identifying Patients with CYP24A1 Mutations.
Ketha H; Kumar R; Singh RJ
Clin Chem; 2016 Jan; 62(1):236-42. PubMed ID: 26585929
[TBL] [Abstract][Full Text] [Related]
20. Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profiling.
Kaufmann M; Schlingmann KP; Berezin L; Molin A; Sheftel J; Vig M; Gallagher JC; Nagata A; Masoud SS; Sakamoto R; Nagasawa K; Uesugi M; Kottler ML; Konrad M; Jones G
J Bone Miner Res; 2021 Jul; 36(7):1340-1350. PubMed ID: 33856702
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
