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Enzyme activity finding

MedGen UID:
741616
Concept ID:
C1827841
Finding
SNOMED CT: Enzyme activity finding (424017009)

Professional guidelines

PubMed

Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, Terryn W, Vujkovac B, Ortiz A
Mol Genet Metab 2022 Sep-Oct;137(1-2):49-61. Epub 2022 Jul 26 doi: 10.1016/j.ymgme.2022.07.010. PMID: 35926321
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR
Mol Genet Metab 2018 Apr;123(4):416-427. Epub 2018 Feb 28 doi: 10.1016/j.ymgme.2018.02.014. PMID: 29530533

Recent clinical studies

Etiology

Burke JE, Hess RS, McEntee EP, Griffin MA, Harmon SM, Silverstein DC
J Vet Emerg Crit Care (San Antonio) 2023 Nov-Dec;33(6):665-675. Epub 2023 Nov 9 doi: 10.1111/vec.13340. PMID: 37943073
Kanner AM, Bicchi MM
JAMA 2022 Apr 5;327(13):1269-1281. doi: 10.1001/jama.2022.3880. PMID: 35380580
Baracos VE, Martin L, Korc M, Guttridge DC, Fearon KCH
Nat Rev Dis Primers 2018 Jan 18;4:17105. doi: 10.1038/nrdp.2017.105. PMID: 29345251
Matsumoto M, Fujimura Y, Wada H, Kokame K, Miyakawa Y, Ueda Y, Higasa S, Moriki T, Yagi H, Miyata T, Murata M; For TTP group of Blood Coagulation Abnormalities Research Team, Research on Rare and Intractable Disease supported by Health, Labour, and Welfare Sciences Research Grants
Int J Hematol 2017 Jul;106(1):3-15. Epub 2017 May 26 doi: 10.1007/s12185-017-2264-7. PMID: 28550351
Mahoney MJ
Clin Perinatol 1976 Mar;3(1):61-78. PMID: 8230

Diagnosis

Burke JE, Hess RS, McEntee EP, Griffin MA, Harmon SM, Silverstein DC
J Vet Emerg Crit Care (San Antonio) 2023 Nov-Dec;33(6):665-675. Epub 2023 Nov 9 doi: 10.1111/vec.13340. PMID: 37943073
Baracos VE, Martin L, Korc M, Guttridge DC, Fearon KCH
Nat Rev Dis Primers 2018 Jan 18;4:17105. doi: 10.1038/nrdp.2017.105. PMID: 29345251
Dodds R, Sayer AA
Arq Bras Endocrinol Metabol 2014 Jul;58(5):464-9. doi: 10.1590/0004-273000000. PMID: 25166036
Di Rocco M, Andria G, Deodato F, Giona F, Micalizzi C, Pession A
Pediatr Blood Cancer 2014 Nov;61(11):1905-9. Epub 2014 Aug 17 doi: 10.1002/pbc.25165. PMID: 25131373
Lampe C, Bellettato CM, Karabul N, Scarpa M
Rheum Dis Clin North Am 2013 May;39(2):431-55. doi: 10.1016/j.rdc.2013.03.004. PMID: 23597973

Therapy

Giugliano RP, Sabatine MS
J Am Coll Cardiol 2015 Jun 23;65(24):2638-2651. doi: 10.1016/j.jacc.2015.05.001. PMID: 26088304
Germain DP
Orphanet J Rare Dis 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 21092187Free PMC Article
Dalpiaz AS, Peterson D
Expert Rev Neurother 2004 Mar;4(2):165-77. doi: 10.1586/14737175.4.2.165. PMID: 15853557
Fox IJ, Chowdhury JR
Am J Transplant 2004;4 Suppl 6:7-13. doi: 10.1111/j.1600-6135.2004.0340.x. PMID: 14871269
Beasley CM Jr, Tollefson GD, Tran PV
J Clin Psychiatry 1997;58 Suppl 10:13-7. PMID: 9265911

Prognosis

McGovern MM, Avetisyan R, Sanson BJ, Lidove O
Orphanet J Rare Dis 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. PMID: 28228103Free PMC Article
Lampe C, Bellettato CM, Karabul N, Scarpa M
Rheum Dis Clin North Am 2013 May;39(2):431-55. doi: 10.1016/j.rdc.2013.03.004. PMID: 23597973
Overlack A
Drug Saf 1996 Jul;15(1):72-8. doi: 10.2165/00002018-199615010-00006. PMID: 8862965
Greene CL, Cann HM, Robinson BH, Gibson KM, Sweetman L, Holm J, Nyhan WL
J Neurogenet 1984 Apr;1(2):165-73. doi: 10.3109/01677068409107082. PMID: 6085636
Diamond LK, Wang WC, Alter BP
Adv Pediatr 1976;22:349-78. PMID: 773132

Clinical prediction guides

Bendapudi PK, Hurwitz S, Fry A, Marques MB, Waldo SW, Li A, Sun L, Upadhyay V, Hamdan A, Brunner AM, Gansner JM, Viswanathan S, Kaufman RM, Uhl L, Stowell CP, Dzik WH, Makar RS
Lancet Haematol 2017 Apr;4(4):e157-e164. Epub 2017 Mar 2 doi: 10.1016/S2352-3026(17)30026-1. PMID: 28259520
Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M; New York State Krabbe Disease Consortium
Genet Med 2016 Mar;18(3):239-48. Epub 2016 Jan 21 doi: 10.1038/gim.2015.211. PMID: 26795590
Sookoian S, Pirola CJ
World J Gastroenterol 2015 Jan 21;21(3):711-25. doi: 10.3748/wjg.v21.i3.711. PMID: 25624707Free PMC Article
Laterza L, Scaldaferri F, Bruno G, Agnes A, Boškoski I, Ianiro G, Gerardi V, Ojetti V, Alfieri S, Gasbarrini A
Eur Rev Med Pharmacol Sci 2013;17 Suppl 2:65-71. PMID: 24443071
Lindkvist B
World J Gastroenterol 2013 Nov 14;19(42):7258-66. doi: 10.3748/wjg.v19.i42.7258. PMID: 24259956Free PMC Article

Recent systematic reviews

Leelakanok N, Petchsomrit A, Janurai T, Saechan C, Sunsandee N
Nutr Health 2023 Sep;29(3):479-503. Epub 2023 May 8 doi: 10.1177/02601060231173732. PMID: 37157782
Wyres KL, Hawkey J, Hetland MAK, Fostervold A, Wick RR, Judd LM, Hamidian M, Howden BP, Löhr IH, Holt KE
J Antimicrob Chemother 2019 Mar 1;74(3):577-581. doi: 10.1093/jac/dky492. PMID: 30517666Free PMC Article
Vaez H, Khademi F, Salehi-Abargouei A, Sahebkar A
Infez Med 2018 Sep 1;26(3):216-225. PMID: 30246764
Yan HJ, Tan Y, Gu W
J BUON 2014 Jan-Mar;19(1):153-6. PMID: 24659657
Shao N, Feng N, Wang Y, Mi Y, Li T, Hua L
Mol Biol Rep 2012 Dec;39(12):10997-1004. Epub 2012 Oct 7 doi: 10.1007/s11033-012-2001-5. PMID: 23053989

Supplemental Content

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