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Deficiency of transferase

MedGen UID:
713627
Concept ID:
C1291317
Disease or Syndrome
SNOMED CT: Deficiency of transferase (124237001)

Professional guidelines

PubMed

Leonard H, Downs J, Benke TA, Swanson L, Olson H, Demarest S
Lancet Neurol 2022 Jun;21(6):563-576. Epub 2022 Apr 25 doi: 10.1016/S1474-4422(22)00035-7. PMID: 35483386Free PMC Article
Slade D
Genes Dev 2020 Mar 1;34(5-6):360-394. Epub 2020 Feb 6 doi: 10.1101/gad.334516.119. PMID: 32029455Free PMC Article
Kwo PY, Cohen SM, Lim JK
Am J Gastroenterol 2017 Jan;112(1):18-35. Epub 2016 Dec 20 doi: 10.1038/ajg.2016.517. PMID: 27995906

Recent clinical studies

Etiology

Pechincha C, Groessl S, Kalis R, de Almeida M, Zanotti A, Wittmann M, Schneider M, de Campos RP, Rieser S, Brandstetter M, Schleiffer A, Müller-Decker K, Helm D, Jabs S, Haselbach D, Lemberg MK, Zuber J, Palm W
Science 2022 Oct 7;378(6615):eabn5637. doi: 10.1126/science.abn5637. PMID: 36074822
Dai X, Liu S, Cheng L, Huang T, Guo H, Wang D, Xia M, Ling W, Xiao Y
Circ Res 2022 May 13;130(10):1565-1582. Epub 2022 Apr 12 doi: 10.1161/CIRCRESAHA.121.320251. PMID: 35410483
Lyon P, Strippoli V, Fang B, Cimmino L
Nutrients 2020 Sep 19;12(9) doi: 10.3390/nu12092867. PMID: 32961717Free PMC Article
Whitfield JB
Crit Rev Clin Lab Sci 2001 Aug;38(4):263-355. doi: 10.1080/20014091084227. PMID: 11563810
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L
Mol Genet Metab 1999 Dec;68(4):424-40. doi: 10.1006/mgme.1999.2938. PMID: 10607472

Diagnosis

Petropoulos M, Karamichali A, Rossetti GG, Freudenmann A, Iacovino LG, Dionellis VS, Sotiriou SK, Halazonetis TD
Nature 2024 Apr;628(8007):433-441. Epub 2024 Mar 20 doi: 10.1038/s41586-024-07217-2. PMID: 38509368Free PMC Article
Schneider M, Al-Shareffi E, Haltiwanger RS
Glycobiology 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. PMID: 28430973Free PMC Article
Smith J, Tho LM, Xu N, Gillespie DA
Adv Cancer Res 2010;108:73-112. doi: 10.1016/B978-0-12-380888-2.00003-0. PMID: 21034966
Morizono H, Caldovic L, Shi D, Tuchman M
Mol Genet Metab 2004 Apr;81 Suppl 1(Suppl 1):S4-11. doi: 10.1016/j.ymgme.2003.10.017. PMID: 15050968Free PMC Article
Bonnefont JP, Demaugre F, Prip-Buus C, Saudubray JM, Brivet M, Abadi N, Thuillier L
Mol Genet Metab 1999 Dec;68(4):424-40. doi: 10.1006/mgme.1999.2938. PMID: 10607472

Therapy

Rao VK, Webster S, Šedivá A, Plebani A, Schuetz C, Shcherbina A, Conlon N, Coulter T, Dalm VA, Trizzino A, Zharankova Y, Kulm E, Körholz J, Lougaris V, Rodina Y, Radford K, Bradt J, Kucher K, Relan A, Holland SM, Lenardo MJ, Uzel G
Blood 2023 Mar 2;141(9):971-983. doi: 10.1182/blood.2022018546. PMID: 36399712Free PMC Article
Grace RF, Barcellini W
Blood 2020 Sep 10;136(11):1241-1249. doi: 10.1182/blood.2019000945. PMID: 32702739
Glossmann HH, Lutz OMD
Gerontology 2019;65(6):581-590. Epub 2019 Sep 13 doi: 10.1159/000502257. PMID: 31522175
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER
Curr Med Chem 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. PMID: 29532755
Friedmann T, Roblin R
Science 1972 Mar 3;175(4025):949-55. doi: 10.1126/science.175.4025.949. PMID: 5061866

Prognosis

Hui Y, Cotzia P, Rana S, Kezlarian BE, Lin O, Hollmann TJ, Dogan S
J Cutan Pathol 2021 Aug;48(8):1051-1060. Epub 2021 Mar 14 doi: 10.1111/cup.13996. PMID: 33625734Free PMC Article
Chaitman BR, Alexander KP, Cyr DD, Berger JS, Reynolds HR, Bangalore S, Boden WE, Lopes RD, Demkow M, Piero Perna G, Riezebos RK, McFalls EO, Banerjee S, Bagai A, Gosselin G, O'Brien SM, Rockhold FW, Waters DD, Thygesen KA, Stone GW, White HD, Maron DJ, Hochman JS; ISCHEMIA Research Group
Circulation 2021 Feb 23;143(8):790-804. Epub 2020 Dec 3 doi: 10.1161/CIRCULATIONAHA.120.047987. PMID: 33267610Free PMC Article
Schneider M, Al-Shareffi E, Haltiwanger RS
Glycobiology 2017 Jul 1;27(7):601-618. doi: 10.1093/glycob/cwx034. PMID: 28430973Free PMC Article
Koenig MK, Hodgeman R, Riviello JJ, Chung W, Bain J, Chiriboga CA, Ichikawa K, Osaka H, Tsuji M, Gibson KM, Bonnen PE, Pearl PL
Neurology 2017 May 16;88(20):1919-1924. Epub 2017 Apr 14 doi: 10.1212/WNL.0000000000003936. PMID: 28411234Free PMC Article
Whitfield JB
Crit Rev Clin Lab Sci 2001 Aug;38(4):263-355. doi: 10.1080/20014091084227. PMID: 11563810

Clinical prediction guides

Inokuchi JI, Go S, Yoshikawa M, Strauss K
Biochim Biophys Acta Gen Subj 2017 Oct;1861(10):2485-2493. Epub 2017 May 30 doi: 10.1016/j.bbagen.2017.05.025. PMID: 28571946
Hori T, Yamaguchi S, Shinkaku H, Horikawa R, Shigematsu Y, Takayanagi M, Fukao T
Pediatr Int 2015;57(1):41-8. doi: 10.1111/ped.12585. PMID: 25559898
Sheth J, Patel P, Sheth F, Shah R
Indian Pediatr 2004 Mar;41(3):260-5. PMID: 15064514
Berger EG, Rohrer J
Biochimie 2003 Mar-Apr;85(3-4):261-74. doi: 10.1016/s0300-9084(03)00008-7. PMID: 12770765
Whitfield JB
Crit Rev Clin Lab Sci 2001 Aug;38(4):263-355. doi: 10.1080/20014091084227. PMID: 11563810

Recent systematic reviews

Lau CH, Seow KM, Chen KH
Int J Mol Sci 2022 Jul 23;23(15) doi: 10.3390/ijms23158125. PMID: 35897700Free PMC Article
Henry NL, Somerfield MR, Dayao Z, Elias A, Kalinsky K, McShane LM, Moy B, Park BH, Shanahan KM, Sharma P, Shatsky R, Stringer-Reasor E, Telli M, Turner NC, DeMichele A
J Clin Oncol 2022 Sep 20;40(27):3205-3221. Epub 2022 Jun 27 doi: 10.1200/JCO.22.01063. PMID: 35759724
Tattersall A, Ryan N, Wiggans AJ, Rogozińska E, Morrison J
Cochrane Database Syst Rev 2022 Feb 16;2(2):CD007929. doi: 10.1002/14651858.CD007929.pub4. PMID: 35170751Free PMC Article
Vitali C, Bajaj A, Nguyen C, Schnall J, Chen J, Stylianou K, Rader DJ, Cuchel M
J Lipid Res 2022 Mar;63(3):100169. Epub 2022 Jan 20 doi: 10.1016/j.jlr.2022.100169. PMID: 35065092Free PMC Article
Kenneson A, Singh RH
Orphanet J Rare Dis 2020 Oct 9;15(1):279. doi: 10.1186/s13023-020-01560-z. PMID: 33036647Free PMC Article

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