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Abnormality of vitamin D metabolism

MedGen UID:
867646
Concept ID:
C4022035
Finding
HPO: HP:0100511

Conditions with this feature

Normophosphatemic familial tumoral calcinosis
MedGen UID:
355311
Concept ID:
C1864861
Disease or Syndrome

Professional guidelines

PubMed

Chen TK, Knicely DH, Grams ME
JAMA 2019 Oct 1;322(13):1294-1304. doi: 10.1001/jama.2019.14745. PMID: 31573641Free PMC Article
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Mizobuchi M, Ogata H, Koiwa F
Ther Apher Dial 2019 Aug;23(4):309-318. Epub 2018 Dec 18 doi: 10.1111/1744-9987.12772. PMID: 30411503

Recent clinical studies

Etiology

de la Guía-Galipienso F, Martínez-Ferran M, Vallecillo N, Lavie CJ, Sanchis-Gomar F, Pareja-Galeano H
Clin Nutr 2021 May;40(5):2946-2957. Epub 2020 Dec 29 doi: 10.1016/j.clnu.2020.12.025. PMID: 33397599Free PMC Article
Syed-Ahmed M, Narayanan M
Adv Chronic Kidney Dis 2019 Jan;26(1):8-15. doi: 10.1053/j.ackd.2019.01.004. PMID: 30876622
Pfotenhauer KM, Shubrook JH
J Am Osteopath Assoc 2017 May 1;117(5):301-305. doi: 10.7556/jaoa.2017.055. PMID: 28459478
Halpern G, Schor E, Kopelman A
Rev Assoc Med Bras (1992) 2015 Nov-Dec;61(6):519-23. doi: 10.1590/1806-9282.61.06.519. PMID: 26841161
Warden SJ, Davis IS, Fredericson M
J Orthop Sports Phys Ther 2014 Oct;44(10):749-65. Epub 2014 Aug 7 doi: 10.2519/jospt.2014.5334. PMID: 25103133

Diagnosis

Shrivastava S, Conigliaro RL
Med Clin North Am 2023 Mar;107(2):227-234. Epub 2022 Dec 26 doi: 10.1016/j.mcna.2022.10.004. PMID: 36759093
Joham AE, Norman RJ, Stener-Victorin E, Legro RS, Franks S, Moran LJ, Boyle J, Teede HJ
Lancet Diabetes Endocrinol 2022 Sep;10(9):668-680. Epub 2022 Aug 4 doi: 10.1016/S2213-8587(22)00163-2. PMID: 35934017
Ko SH, Kim HS
Nutrients 2020 Jan 13;12(1) doi: 10.3390/nu12010202. PMID: 31941004Free PMC Article
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
Pfotenhauer KM, Shubrook JH
J Am Osteopath Assoc 2017 May 1;117(5):301-305. doi: 10.7556/jaoa.2017.055. PMID: 28459478

Therapy

de la Guía-Galipienso F, Martínez-Ferran M, Vallecillo N, Lavie CJ, Sanchis-Gomar F, Pareja-Galeano H
Clin Nutr 2021 May;40(5):2946-2957. Epub 2020 Dec 29 doi: 10.1016/j.clnu.2020.12.025. PMID: 33397599Free PMC Article
Battistini C, Ballan R, Herkenhoff ME, Saad SMI, Sun J
Int J Mol Sci 2020 Dec 31;22(1) doi: 10.3390/ijms22010362. PMID: 33396382Free PMC Article
Mizobuchi M, Ogata H, Koiwa F
Ther Apher Dial 2019 Aug;23(4):309-318. Epub 2018 Dec 18 doi: 10.1111/1744-9987.12772. PMID: 30411503
Pfotenhauer KM, Shubrook JH
J Am Osteopath Assoc 2017 May 1;117(5):301-305. doi: 10.7556/jaoa.2017.055. PMID: 28459478
Halpern G, Schor E, Kopelman A
Rev Assoc Med Bras (1992) 2015 Nov-Dec;61(6):519-23. doi: 10.1590/1806-9282.61.06.519. PMID: 26841161

Prognosis

Ackah SA, Imel EA
J Clin Endocrinol Metab 2022 Dec 17;108(1):209-220. doi: 10.1210/clinem/dgac488. PMID: 35981346Free PMC Article
Biver E
Calcif Tissue Int 2022 May;110(5):624-640. Epub 2022 Jan 30 doi: 10.1007/s00223-022-00946-4. PMID: 35098324Free PMC Article
Hsu CY, Chen LR, Chen KH
Int J Mol Sci 2020 Sep 18;21(18) doi: 10.3390/ijms21186846. PMID: 32961953Free PMC Article
Chen TK, Knicely DH, Grams ME
JAMA 2019 Oct 1;322(13):1294-1304. doi: 10.1001/jama.2019.14745. PMID: 31573641Free PMC Article
Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox T, Goker-Alpan O, Kindmark A, Mistry P, Poll L, Weinreb N, Deegan P
J Bone Miner Res 2019 Jun;34(6):996-1013. Epub 2019 Jun 24 doi: 10.1002/jbmr.3734. PMID: 31233632Free PMC Article

Clinical prediction guides

Bouillon R
Osteoporos Int 2019 Nov;30(11):2167-2181. Epub 2019 Aug 11 doi: 10.1007/s00198-019-05098-0. PMID: 31402402
Leaf DE, Christov M
Semin Nephrol 2019 Jan;39(1):41-56. doi: 10.1016/j.semnephrol.2018.10.004. PMID: 30606407
Bhargava P, Fitzgerald KC, Calabresi PA, Mowry EM
JCI Insight 2017 Oct 5;2(19) doi: 10.1172/jci.insight.95302. PMID: 28978801Free PMC Article
Pacheco-Gonzalez RM, Garcia-Marcos PW, Garcia-Marcos L
Mini Rev Med Chem 2015;15(11):927-34. doi: 10.2174/1389557515666150519110209. PMID: 25985948
Vervloet M
Curr Vasc Pharmacol 2014 Mar;12(2):300-5. doi: 10.2174/15701611113119990132. PMID: 23713871

Recent systematic reviews

Donayeva A, Amanzholkyzy A, Abdelazim I, Saparbayev S, Nurgaliyeva R, Kaldybayeva A, Zhexenova A, Gubasheva G, Ayaganov D, Samaha I
J Med Life 2023 Nov;16(11):1597-1605. doi: 10.25122/jml-2023-0248. PMID: 38406773Free PMC Article
Hsu CY, Chen LR, Chen KH
Int J Mol Sci 2020 Sep 18;21(18) doi: 10.3390/ijms21186846. PMID: 32961953Free PMC Article
Lee S, Lee H, Lee CH, Lee WS
J Am Acad Dermatol 2019 Feb;80(2):466-477.e16. Epub 2018 Jul 18 doi: 10.1016/j.jaad.2018.07.013. PMID: 30031145
Irani M, Merhi Z
Fertil Steril 2014 Aug;102(2):460-468.e3. Epub 2014 Jun 3 doi: 10.1016/j.fertnstert.2014.04.046. PMID: 24933120
Hyppönen E, Cavadino A, Williams D, Fraser A, Vereczkey A, Fraser WD, Bánhidy F, Lawlor D, Czeizel AE
Ann Nutr Metab 2013;63(4):331-40. Epub 2014 Feb 28 doi: 10.1159/000358338. PMID: 24603503

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    Clinical resources

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