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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

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
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
Mahoney MJ
Clin Perinatol 1976 Mar;3(1):61-78. PMID: 8230

Diagnosis

Dimopoulos K, Tripodi A, Goetze JP
Crit Rev Clin Lab Sci 2023 Dec;60(8):625-639. Epub 2023 Jul 14 doi: 10.1080/10408363.2023.2232039. PMID: 37452521
Simonetta I, Tuttolomondo A, Daidone M, Miceli S, Pinto A
Curr Pharm Des 2020;26(40):5089-5099. doi: 10.2174/1381612826666200317142412. PMID: 32183665
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
Dodds R, Sayer AA
Arq Bras Endocrinol Metabol 2014 Jul;58(5):464-9. doi: 10.1590/0004-273000000. PMID: 25166036

Therapy

Mai L, Zhu X, Huang F, He H, Fan W
Life Sci 2020 Sep 1;256:117885. Epub 2020 May 30 doi: 10.1016/j.lfs.2020.117885. PMID: 32485175
Simonetta I, Tuttolomondo A, Daidone M, Miceli S, Pinto A
Curr Pharm Des 2020;26(40):5089-5099. doi: 10.2174/1381612826666200317142412. PMID: 32183665
Alexiou GA, Lianos GD, Ragos V, Galani V, Kyritsis AP
Future Oncol 2017 Apr;13(9):809-819. Epub 2017 Jan 27 doi: 10.2217/fon-2016-0266. PMID: 28125906
Germain DP
Orphanet J Rare Dis 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. PMID: 21092187Free PMC Article
Fox IJ, Chowdhury JR
Am J Transplant 2004;4 Suppl 6:7-13. doi: 10.1111/j.1600-6135.2004.0340.x. PMID: 14871269

Prognosis

Hsu TR, Niu DM
Trends Cardiovasc Med 2018 May;28(4):274-281. Epub 2017 Oct 20 doi: 10.1016/j.tcm.2017.10.001. PMID: 29100912
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
Karetova D, Bultas J, Dostalova G, Palecek T, Kovarnik T, Golan L, Linhart A
Vasa 2010 May;39(2):123-31. doi: 10.1024/0301-1526/a000017. PMID: 20464667
Overlack A
Drug Saf 1996 Jul;15(1):72-8. doi: 10.2165/00002018-199615010-00006. PMID: 8862965
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
Chopra A, Kalkanis A, Judson MA
Expert Rev Clin Immunol 2016 Nov;12(11):1191-1208. Epub 2016 Jun 27 doi: 10.1080/1744666X.2016.1196135. PMID: 27253883
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
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

Al-Dhubaibi MS, Alsenaid A, Alhetheli G, Abd Elneam AI
Skin Res Technol 2023 Jun;29(6):e13378. doi: 10.1111/srt.13378. PMID: 37357664Free PMC Article
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
Gramegna A, Amati F, Terranova L, Sotgiu G, Tarsia P, Miglietta D, Calderazzo MA, Aliberti S, Blasi F
Respir Res 2017 Dec 19;18(1):211. doi: 10.1186/s12931-017-0691-x. PMID: 29258516Free PMC Article
Popli DB, Sircar K, Chowdhry A
Indian J Dent Res 2017 Sep-Oct;28(5):574-584. doi: 10.4103/ijdr.IJDR_690_16. PMID: 29072223
Islam MM, Iqbal U, Walther BA, Nguyen PA, Li YJ, Dubey NK, Poly TN, Masud JHB, Atique S, Syed-Abdul S
Arch Gynecol Obstet 2017 Jun;295(6):1305-1317. Epub 2017 Apr 4 doi: 10.1007/s00404-017-4363-3. PMID: 28378180

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