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Disorder of other vitamins and cofactors metabolism and transport

MedGen UID:
1842660
Concept ID:
C5681036
Disease or Syndrome
Orphanet: ORPHA309833

Professional guidelines

PubMed

Thomson AD, Guerrini I, Marshall EJ
Neuropsychol Rev 2012 Jun;22(2):81-92. Epub 2012 May 9 doi: 10.1007/s11065-012-9196-z. PMID: 22569770Free PMC Article
Horvath R
J Inherit Metab Dis 2012 Jul;35(4):679-87. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9434-1. PMID: 22231380
Orsucci D, Filosto M, Siciliano G, Mancuso M
Nutr Rev 2009 Aug;67(8):427-38. doi: 10.1111/j.1753-4887.2009.00221.x. PMID: 19674340

Recent clinical studies

Etiology

Sun P, Li Z, Zhang B
J Cancer Res Ther 2023 Aug;19(4):881-891. doi: 10.4103/jcrt.jcrt_139_22. PMID: 37675712
Liu D, Wang J, Xie Y
Front Cell Infect Microbiol 2022;12:976710. Epub 2022 Sep 27 doi: 10.3389/fcimb.2022.976710. PMID: 36237432Free PMC Article
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Sobczyńska-Malefora A, Delvin E, McCaddon A, Ahmadi KR, Harrington DJ
Crit Rev Clin Lab Sci 2021 Sep;58(6):399-429. Epub 2021 Apr 21 doi: 10.1080/10408363.2021.1885339. PMID: 33881359
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA
J Inherit Metab Dis 2015 May;38(3):391-403. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9787-3. PMID: 25526709

Diagnosis

Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Sobczyńska-Malefora A, Delvin E, McCaddon A, Ahmadi KR, Harrington DJ
Crit Rev Clin Lab Sci 2021 Sep;58(6):399-429. Epub 2021 Apr 21 doi: 10.1080/10408363.2021.1885339. PMID: 33881359
Sperl W, Fleuren L, Freisinger P, Haack TB, Ribes A, Feichtinger RG, Rodenburg RJ, Zimmermann FA, Koch J, Rivera I, Prokisch H, Smeitink JA, Mayr JA
J Inherit Metab Dis 2015 May;38(3):391-403. Epub 2014 Dec 20 doi: 10.1007/s10545-014-9787-3. PMID: 25526709
Wilcken B
Semin Neurol 2012 Feb;32(1):68-74. Epub 2012 Mar 15 doi: 10.1055/s-0032-1306389. PMID: 22422209
Wilson JX
Annu Rev Nutr 2005;25:105-25. doi: 10.1146/annurev.nutr.25.050304.092647. PMID: 16011461

Therapy

Liu D, Wang J, Xie Y
Front Cell Infect Microbiol 2022;12:976710. Epub 2022 Sep 27 doi: 10.3389/fcimb.2022.976710. PMID: 36237432Free PMC Article
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Pallardó FV, Pagano G, Rodríguez LR, Gonzalez-Cabo P, Lyakhovich A, Trifuoggi M
Transl Res 2021 Mar;229:135-141. Epub 2020 Aug 22 doi: 10.1016/j.trsl.2020.08.009. PMID: 32841735
Pozzer D, Invernizzi RW, Blaauw B, Cantoni O, Zito E
Antioxid Redox Signal 2021 Apr 10;34(11):845-855. Epub 2020 Jan 22 doi: 10.1089/ars.2019.7912. PMID: 31867990
Orsucci D, Filosto M, Siciliano G, Mancuso M
Nutr Rev 2009 Aug;67(8):427-38. doi: 10.1111/j.1753-4887.2009.00221.x. PMID: 19674340

Prognosis

Sun P, Li Z, Zhang B
J Cancer Res Ther 2023 Aug;19(4):881-891. doi: 10.4103/jcrt.jcrt_139_22. PMID: 37675712
Liu Y, Wang J, Dong B, Zhai Y, Zhou L, Sun S, Li X, Wu L
Int Endod J 2023 May;56(5):608-621. Epub 2023 Jan 31 doi: 10.1111/iej.13890. PMID: 36648366
Liu D, Wang J, Xie Y
Front Cell Infect Microbiol 2022;12:976710. Epub 2022 Sep 27 doi: 10.3389/fcimb.2022.976710. PMID: 36237432Free PMC Article
Plantone D, Pardini M, Rinaldi G
Clin Drug Investig 2021 Jun;41(6):513-527. Epub 2021 Apr 22 doi: 10.1007/s40261-021-01038-1. PMID: 33886098
Pallardó FV, Pagano G, Rodríguez LR, Gonzalez-Cabo P, Lyakhovich A, Trifuoggi M
Transl Res 2021 Mar;229:135-141. Epub 2020 Aug 22 doi: 10.1016/j.trsl.2020.08.009. PMID: 32841735

Clinical prediction guides

Sun P, Li Z, Zhang B
J Cancer Res Ther 2023 Aug;19(4):881-891. doi: 10.4103/jcrt.jcrt_139_22. PMID: 37675712
Irfan, Soleja N, Mohsin M
Anal Biochem 2023 Oct 15;679:115285. Epub 2023 Aug 14 doi: 10.1016/j.ab.2023.115285. PMID: 37586674
Liu Y, Wang J, Dong B, Zhai Y, Zhou L, Sun S, Li X, Wu L
Int Endod J 2023 May;56(5):608-621. Epub 2023 Jan 31 doi: 10.1111/iej.13890. PMID: 36648366
Liu D, Wang J, Xie Y
Front Cell Infect Microbiol 2022;12:976710. Epub 2022 Sep 27 doi: 10.3389/fcimb.2022.976710. PMID: 36237432Free PMC Article
Driscoll TP, Verhoeve VI, Guillotte ML, Lehman SS, Rennoll SA, Beier-Sexton M, Rahman MS, Azad AF, Gillespie JJ
mBio 2017 Sep 26;8(5) doi: 10.1128/mBio.00859-17. PMID: 28951473Free PMC Article

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