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Disorder of multiple glycosylation

MedGen UID:
1843364
Concept ID:
C5681039
Disease or Syndrome
Synonym: disorder of multiple glycosylation
 
Monarch Initiative: MONDO:0017749
Orphanet: ORPHA309526

Professional guidelines

PubMed

Vaes L, Rymen D, Cassiman D, Ligezka A, Vanhoutvin N, Quelhas D, Morava E, Witters P
Genes (Basel) 2021 Oct 21;12(11) doi: 10.3390/genes12111658. PMID: 34828263Free PMC Article
Lê GN, Bones J, Coyne M, Bazou D, Dowling P, O'Gorman P, Larkin AM
Mol Omics 2019 Feb 11;15(1):7-20. doi: 10.1039/c8mo00193f. PMID: 30652172
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article

Recent clinical studies

Etiology

Li C, Stražar M, Mohamed AMT, Pacheco JA, Walker RL, Lebar T, Zhao S, Lockart J, Dame A, Thurimella K, Jeanfavre S, Brown EM, Ang QY, Berdy B, Sergio D, Invernizzi R, Tinoco A, Pishchany G, Vasan RS, Balskus E, Huttenhower C, Vlamakis H, Clish C, Shaw SY, Plichta DR, Xavier RJ
Cell 2024 Apr 11;187(8):1834-1852.e19. Epub 2024 Apr 2 doi: 10.1016/j.cell.2024.03.014. PMID: 38569543Free PMC Article
Moncla LM, Mathieu S, Sylla MS, Bossé Y, Thériault S, Arsenault BJ, Mathieu P
BMC Genomics 2022 Aug 13;23(1):588. doi: 10.1186/s12864-022-08811-2. PMID: 35964012Free PMC Article
Maida CD, Daidone M, Pacinella G, Norrito RL, Pinto A, Tuttolomondo A
Int J Mol Sci 2022 Feb 21;23(4) doi: 10.3390/ijms23042397. PMID: 35216512Free PMC Article
Wang J, Wu D, Guo H, Li M
Life Sci 2019 Nov 1;236:116940. Epub 2019 Oct 8 doi: 10.1016/j.lfs.2019.116940. PMID: 31604107
Brenner C, Galluzzi L, Kepp O, Kroemer G
J Hepatol 2013 Sep;59(3):583-94. Epub 2013 Apr 6 doi: 10.1016/j.jhep.2013.03.033. PMID: 23567086

Diagnosis

Li C, Stražar M, Mohamed AMT, Pacheco JA, Walker RL, Lebar T, Zhao S, Lockart J, Dame A, Thurimella K, Jeanfavre S, Brown EM, Ang QY, Berdy B, Sergio D, Invernizzi R, Tinoco A, Pishchany G, Vasan RS, Balskus E, Huttenhower C, Vlamakis H, Clish C, Shaw SY, Plichta DR, Xavier RJ
Cell 2024 Apr 11;187(8):1834-1852.e19. Epub 2024 Apr 2 doi: 10.1016/j.cell.2024.03.014. PMID: 38569543Free PMC Article
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Li M, Chen H, Yin P, Song J, Jiang F, Tang Z, Fan X, Xu C, Wang Y, Xue Y, Han B, Wang H, Li G, Zhong D
Front Immunol 2021;12:753929. Epub 2021 Dec 7 doi: 10.3389/fimmu.2021.753929. PMID: 34950135Free PMC Article
Rassart E, Desmarais F, Najyb O, Bergeron KF, Mounier C
Gene 2020 Sep 25;756:144874. Epub 2020 Jun 15 doi: 10.1016/j.gene.2020.144874. PMID: 32554047Free PMC Article
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article

Therapy

Murray JA, Wassaf D, Dunn K, Arora S, Winkle P, Stacey H, Cooper S, Goldstein KE, Manchanda R, Kontos S, Grebe KM
Lancet Gastroenterol Hepatol 2023 Aug;8(8):735-747. Epub 2023 Jun 14 doi: 10.1016/S2468-1253(23)00107-3. PMID: 37329900
Moncla LM, Mathieu S, Sylla MS, Bossé Y, Thériault S, Arsenault BJ, Mathieu P
BMC Genomics 2022 Aug 13;23(1):588. doi: 10.1186/s12864-022-08811-2. PMID: 35964012Free PMC Article
Rauen T, Floege J
Pediatr Nephrol 2017 Dec;32(12):2215-2224. Epub 2017 Mar 14 doi: 10.1007/s00467-017-3628-1. PMID: 28293726
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article
Gaede P, Vedel P, Larsen N, Jensen GV, Parving HH, Pedersen O
N Engl J Med 2003 Jan 30;348(5):383-93. doi: 10.1056/NEJMoa021778. PMID: 12556541

Prognosis

Li C, Stražar M, Mohamed AMT, Pacheco JA, Walker RL, Lebar T, Zhao S, Lockart J, Dame A, Thurimella K, Jeanfavre S, Brown EM, Ang QY, Berdy B, Sergio D, Invernizzi R, Tinoco A, Pishchany G, Vasan RS, Balskus E, Huttenhower C, Vlamakis H, Clish C, Shaw SY, Plichta DR, Xavier RJ
Cell 2024 Apr 11;187(8):1834-1852.e19. Epub 2024 Apr 2 doi: 10.1016/j.cell.2024.03.014. PMID: 38569543Free PMC Article
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Li M, Chen H, Yin P, Song J, Jiang F, Tang Z, Fan X, Xu C, Wang Y, Xue Y, Han B, Wang H, Li G, Zhong D
Front Immunol 2021;12:753929. Epub 2021 Dec 7 doi: 10.3389/fimmu.2021.753929. PMID: 34950135Free PMC Article
Dotz V, Visconti A, Lomax-Browne HJ, Clerc F, Hipgrave Ederveen AL, Medjeral-Thomas NR, Cook HT, Pickering MC, Wuhrer M, Falchi M
J Am Soc Nephrol 2021 Oct;32(10):2455-2465. Epub 2021 Jun 14 doi: 10.1681/ASN.2020081208. PMID: 34127537Free PMC Article

Clinical prediction guides

Li C, Stražar M, Mohamed AMT, Pacheco JA, Walker RL, Lebar T, Zhao S, Lockart J, Dame A, Thurimella K, Jeanfavre S, Brown EM, Ang QY, Berdy B, Sergio D, Invernizzi R, Tinoco A, Pishchany G, Vasan RS, Balskus E, Huttenhower C, Vlamakis H, Clish C, Shaw SY, Plichta DR, Xavier RJ
Cell 2024 Apr 11;187(8):1834-1852.e19. Epub 2024 Apr 2 doi: 10.1016/j.cell.2024.03.014. PMID: 38569543Free PMC Article
Winer H, Rodrigues GOL, Hixon JA, Aiello FB, Hsu TC, Wachter BT, Li W, Durum SK
Cytokine 2022 Dec;160:156049. Epub 2022 Oct 3 doi: 10.1016/j.cyto.2022.156049. PMID: 36201890
Maida CD, Daidone M, Pacinella G, Norrito RL, Pinto A, Tuttolomondo A
Int J Mol Sci 2022 Feb 21;23(4) doi: 10.3390/ijms23042397. PMID: 35216512Free PMC Article
Dotz V, Visconti A, Lomax-Browne HJ, Clerc F, Hipgrave Ederveen AL, Medjeral-Thomas NR, Cook HT, Pickering MC, Wuhrer M, Falchi M
J Am Soc Nephrol 2021 Oct;32(10):2455-2465. Epub 2021 Jun 14 doi: 10.1681/ASN.2020081208. PMID: 34127537Free PMC Article
Cheng A, Tse KH, Chow HM, Gan Y, Song X, Ma F, Qian YXY, She W, Herrup K
Autophagy 2021 Aug;17(8):1998-2010. Epub 2020 Aug 14 doi: 10.1080/15548627.2020.1805860. PMID: 32757690Free PMC Article

Recent systematic reviews

Zhao Y, Ma Y, Zhao C, Lu J, Jiang H, Cao Y, Xu Y
BMC Health Serv Res 2022 May 5;22(1):603. doi: 10.1186/s12913-022-07838-1. PMID: 35513809Free PMC Article
Raine C, Austin K, Giles I
Semin Arthritis Rheum 2020 Dec;50(6):1357-1369. Epub 2020 Mar 19 doi: 10.1016/j.semarthrit.2020.03.006. PMID: 32224046
Gupta R, Leon F, Rauth S, Batra SK, Ponnusamy MP
Cells 2020 Feb 14;9(2) doi: 10.3390/cells9020446. PMID: 32075174Free PMC Article
Simpson TC, Weldon JC, Worthington HV, Needleman I, Wild SH, Moles DR, Stevenson B, Furness S, Iheozor-Ejiofor Z
Cochrane Database Syst Rev 2015 Nov 6;2015(11):CD004714. doi: 10.1002/14651858.CD004714.pub3. PMID: 26545069Free PMC Article
Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732

Supplemental Content

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    Clinical resources

    Practice guidelines

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