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Enzymopathy

MedGen UID:
636069
Concept ID:
C0520572
Disease or Syndrome
Synonym: Enzyme disorder
SNOMED CT: Enzymopathy (78548001); Enzyme disorder (78548001)

Professional guidelines

PubMed

Vidavalur R, Bhutani VK
J Matern Fetal Neonatal Med 2022 Dec;35(25):5745-5753. Epub 2021 Feb 24 doi: 10.1080/14767058.2021.1892067. PMID: 33627013
Morado M, Villegas AM, de la Iglesia S, Martínez-Nieto J, Del Orbe Barreto R, Beneitez D, Salido E; en representación del Grupo Español de Eritropatología
Med Clin (Barc) 2021 Sep 10;157(5):253.e1-253.e8. Epub 2021 Jan 9 doi: 10.1016/j.medcli.2020.10.018. PMID: 33431182
Eichelbaum M, Evert B
Clin Exp Pharmacol Physiol 1996 Oct-Nov;23(10-11):983-5. doi: 10.1111/j.1440-1681.1996.tb01154.x. PMID: 8911746

Recent clinical studies

Etiology

Gandar C, Scott JG, Warren N
World J Biol Psychiatry 2024 Feb;25(2):151-159. Epub 2024 Jan 31 doi: 10.1080/15622975.2023.2290563. PMID: 38044502
Merzon E, Magen E, Ashkenazi S, Weizman A, Manor I, Krone B, Green I, Golan-Cohen A, Vinker S, Faraone SV, Israel A
Nutrients 2023 Nov 29;15(23) doi: 10.3390/nu15234948. PMID: 38068806Free PMC Article
Gomez CR, Espinoza I, Faruque FS, Hasan MM, Rahman KM, Walker LA, Muhammad I
Molecules 2021 Feb 23;26(4) doi: 10.3390/molecules26041191. PMID: 33672163Free PMC Article
Ruwende C, Hill A
J Mol Med (Berl) 1998 Jul;76(8):581-8. doi: 10.1007/s001090050253. PMID: 9694435
Elleder M
Pathol Res Pract 1989 Sep;185(3):293-328. doi: 10.1016/S0344-0338(89)80006-8. PMID: 2682573

Diagnosis

Gandar C, Scott JG, Warren N
World J Biol Psychiatry 2024 Feb;25(2):151-159. Epub 2024 Jan 31 doi: 10.1080/15622975.2023.2290563. PMID: 38044502
Merzon E, Magen E, Ashkenazi S, Weizman A, Manor I, Krone B, Green I, Golan-Cohen A, Vinker S, Faraone SV, Israel A
Nutrients 2023 Nov 29;15(23) doi: 10.3390/nu15234948. PMID: 38068806Free PMC Article
Hernández-Ochoa B, Ortega-Cuellar D, González-Valdez A, Martínez-Rosas V, Morales-Luna L, Rojas-Alarcón MA, Vázquez-Bautista M, Arreguin-Espinosa R, Pérez de la Cruz V, Castillo-Rodríguez RA, Canseco-Ávila LM, Vidal-Limón A, Gómez-Manzo S
Int J Mol Sci 2023 Aug 11;24(16) doi: 10.3390/ijms241612691. PMID: 37628871Free PMC Article
Whyte MP
Bone 2023 Apr;169:116684. Epub 2023 Jan 27 doi: 10.1016/j.bone.2023.116684. PMID: 36709914
Elleder M
Pathol Res Pract 1989 Sep;185(3):293-328. doi: 10.1016/S0344-0338(89)80006-8. PMID: 2682573

Therapy

Merzon E, Magen E, Ashkenazi S, Weizman A, Manor I, Krone B, Green I, Golan-Cohen A, Vinker S, Faraone SV, Israel A
Nutrients 2023 Nov 29;15(23) doi: 10.3390/nu15234948. PMID: 38068806Free PMC Article
Gomez CR, Espinoza I, Faruque FS, Hasan MM, Rahman KM, Walker LA, Muhammad I
Molecules 2021 Feb 23;26(4) doi: 10.3390/molecules26041191. PMID: 33672163Free PMC Article
Recht J, Ashley EA, White NJ
PLoS Negl Trop Dis 2018 Apr;12(4):e0006230. Epub 2018 Apr 19 doi: 10.1371/journal.pntd.0006230. PMID: 29672516Free PMC Article
Hagag AA, Badraia IM, Elfarargy MS, Abd Elmageed MM, Abo-Ali EA
Endocr Metab Immune Disord Drug Targets 2018 Feb 13;18(2):155-162. doi: 10.2174/1871530317666171003160350. PMID: 28982343
Zuin M, Rigatelli G, Carraro M, Galasso MP, Dell'Avvocata F, Paolini R, Zuliani G, Roncon L
Cardiovasc Revasc Med 2017 Apr-May;18(3):226-229. Epub 2016 Nov 28 doi: 10.1016/j.carrev.2016.11.011. PMID: 27914991

Prognosis

Koromina M, Pandi MT, van der Spek PJ, Patrinos GP, Lauschke VM
Pharmacol Res 2021 Nov;173:105904. Epub 2021 Sep 20 doi: 10.1016/j.phrs.2021.105904. PMID: 34551338
Kapadia AB, Sharma P, Jain K, Sachdeva MUS, Bose PL, Gupta M, Khadwal AR, Bal A, Das R, Varma N
Trop Med Int Health 2021 Apr;26(4):462-468. Epub 2021 Feb 2 doi: 10.1111/tmi.13547. PMID: 33415798
Recht J, Ashley EA, White NJ
PLoS Negl Trop Dis 2018 Apr;12(4):e0006230. Epub 2018 Apr 19 doi: 10.1371/journal.pntd.0006230. PMID: 29672516Free PMC Article
Sodeinde O
Baillieres Clin Haematol 1992 Apr;5(2):367-82. doi: 10.1016/s0950-3536(11)80024-7. PMID: 1511180
Elleder M
Pathol Res Pract 1989 Sep;185(3):293-328. doi: 10.1016/S0344-0338(89)80006-8. PMID: 2682573

Clinical prediction guides

Fernández-Espejo E
Neurologia (Engl Ed) 2022 Oct;37(8):661-667. Epub 2021 Feb 25 doi: 10.1016/j.nrleng.2018.12.017. PMID: 36195375
Fernández-Espejo E
Neurologia (Engl Ed) 2022 Oct;37(8):661-667. Epub 2019 Apr 2 doi: 10.1016/j.nrl.2018.12.008. PMID: 30952477
Koromina M, Pandi MT, van der Spek PJ, Patrinos GP, Lauschke VM
Pharmacol Res 2021 Nov;173:105904. Epub 2021 Sep 20 doi: 10.1016/j.phrs.2021.105904. PMID: 34551338
Kapadia AB, Sharma P, Jain K, Sachdeva MUS, Bose PL, Gupta M, Khadwal AR, Bal A, Das R, Varma N
Trop Med Int Health 2021 Apr;26(4):462-468. Epub 2021 Feb 2 doi: 10.1111/tmi.13547. PMID: 33415798
Sodeinde O
Baillieres Clin Haematol 1992 Apr;5(2):367-82. doi: 10.1016/s0950-3536(11)80024-7. PMID: 1511180

Recent systematic reviews

Gandar C, Scott JG, Warren N
World J Biol Psychiatry 2024 Feb;25(2):151-159. Epub 2024 Jan 31 doi: 10.1080/15622975.2023.2290563. PMID: 38044502

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