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Qualitative or quantitative defects of delta-sarcoglycan

MedGen UID:
1826098
Concept ID:
C5680806
Disease or Syndrome
Synonym: Delta-sarcoglycanopathy
 
Monarch Initiative: MONDO:0016144
Orphanet: ORPHA207070

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Dart RC, Mullins ME, Matoushek T, Ruha AM, Burns MM, Simone K, Beuhler MC, Heard KJ, Mazer-Amirshahi M, Stork CM, Varney SM, Funk AR, Cantrell LF, Cole JB, Banner W, Stolbach AI, Hendrickson RG, Lucyk SN, Sivilotti MLA, Su MK, Nelson LS, Rumack BH
JAMA Netw Open 2023 Aug 1;6(8):e2327739. doi: 10.1001/jamanetworkopen.2023.27739. PMID: 37552484
Rublee C, Dresser C, Giudice C, Lemery J, Sorensen C
West J Emerg Med 2021 Feb 26;22(2):186-195. doi: 10.5811/westjem.2020.11.49007. PMID: 33856299Free PMC Article
Morrissey D, Cotchett M, Said J'Bari A, Prior T, Griffiths IB, Rathleff MS, Gulle H, Vicenzino B, Barton CJ
Br J Sports Med 2021 Oct;55(19):1106-1118. Epub 2021 Mar 30 doi: 10.1136/bjsports-2019-101970. PMID: 33785535Free PMC Article

Recent clinical studies

Etiology

McKenna-Plumley PE, Turner RN, Yang K, Groarke JM
Int J Qual Stud Health Well-being 2023 Dec;18(1):2223868. doi: 10.1080/17482631.2023.2223868. PMID: 37327403Free PMC Article
Bittmann JA, Haefeli WE, Seidling HM
Appl Clin Inform 2022 Mar;13(2):468-485. Epub 2022 Aug 18 doi: 10.1055/s-0042-1748146. PMID: 35981555Free PMC Article
Boileau-Falardeau M, Contreras G, Gariépy G, Laprise C
Health Promot Chronic Dis Prev Can 2022 Feb;42(2):47-59. doi: 10.24095/hpcdp.42.2.01. PMID: 35170930Free PMC Article
Zurashvili T, Chakhaia T, Kochlamazashvili M, Kamkamidze G, Butsashvili M
Georgian Med News 2022 Jan;(322):43-47. PMID: 35134758Free PMC Article
Jackson K, Rosenberg J, Jansen E, Mallan KM
J Nutr Educ Behav 2021 Oct;53(10):858-869. Epub 2021 Jul 10 doi: 10.1016/j.jneb.2021.04.465. PMID: 34257029

Diagnosis

Di Giuliano F, Minosse S, Picchi E, Ferrazzoli V, Da Ros V, Muto M, Pistolese CA, Garaci F, Floris R
Radiol Med 2021 Sep;126(9):1207-1215. Epub 2021 Jun 15 doi: 10.1007/s11547-021-01380-6. PMID: 34131844
Dewey RS, Gomez R, Degg C, Baguley DM, Glover PM
J Vestib Res 2020;30(6):353-361. doi: 10.3233/VES-201538. PMID: 33285663
Klingenhoefer S, Krekelberg B
J Vis 2017 Aug 1;17(9):16. doi: 10.1167/17.9.16. PMID: 28837962Free PMC Article
Qu M, An B, Shen S, Zhang M, Shen X, Duan X, Balthasar JP, Qu J
Mass Spectrom Rev 2017 Nov;36(6):734-754. Epub 2016 Apr 20 doi: 10.1002/mas.21500. PMID: 27097288
Agarwal S, Nag P, Sikora S, Prasad TL, Kumar S, Gupta RK
Abdom Imaging 2006 Sep-Oct;31(5):582-7. Epub 2006 Feb 7 doi: 10.1007/s00261-005-0155-5. PMID: 16465580

Therapy

Baldi Antognini A, Novelli M, Zagoraiou M
Stat Med 2023 Apr 30;42(9):1323-1337. Epub 2023 Jan 27 doi: 10.1002/sim.9672. PMID: 37078360
Fueki K, Inamochi Y, Wada J, Arai Y, Takaichi A, Murakami N, Ueno T, Wakabayashi N
J Prosthodont Res 2022 Jan 11;66(1):40-52. Epub 2021 Jan 26 doi: 10.2186/jpr.JPR_D_20_00116. PMID: 33504721
Fazzari MJ, Kim MY
Stat Med 2021 Oct 30;40(24):5174-5187. Epub 2021 Jun 22 doi: 10.1002/sim.9118. PMID: 34155676
Fairhurst K, Blazeby JM, Potter S, Gamble C, Rowlands C, Avery KNL
Br J Surg 2019 Jul;106(8):968-978. Epub 2019 May 10 doi: 10.1002/bjs.11167. PMID: 31074503Free PMC Article
Snowdon C
Trials 2015 Dec 8;16:558. doi: 10.1186/s13063-015-1084-4. PMID: 26646545Free PMC Article

Prognosis

Zou T, Liu XY, Wang PC, Chen H, Wu PG, Feng XM, Sun HH
Clin Spine Surg 2024 Jul 1;37(6):256-269. Epub 2023 Jul 31 doi: 10.1097/BSD.0000000000001490. PMID: 37559207
Kappen PR, Kakar E, Dirven CMF, van der Jagt M, Klimek M, Osse RJ, Vincent APJE
Neurosurg Rev 2022 Feb;45(1):329-341. Epub 2021 Aug 16 doi: 10.1007/s10143-021-01619-w. PMID: 34396454Free PMC Article
Muaddi H, Hafid ME, Choi WJ, Lillie E, de Mestral C, Nathens A, Stukel TA, Karanicolas PJ
Ann Surg 2021 Mar 1;273(3):467-473. doi: 10.1097/SLA.0000000000003915. PMID: 32398482
Murray-Davis B, Grenier L, Atkinson SA, Mottola MF, Wahoush O, Thabane L, Xie F, Vickers-Manzin J, Moore C, Hutton EK
BMC Pregnancy Childbirth 2019 Oct 21;19(1):368. doi: 10.1186/s12884-019-2508-z. PMID: 31638920Free PMC Article
Stewart K, Choudry MI, Buckingham R
Clin Med (Lond) 2016 Dec;16(6):530-534. doi: 10.7861/clinmedicine.16-6-530. PMID: 27927816Free PMC Article

Clinical prediction guides

Bramah C, Tawiah-Dodoo J, Rhodes S, Elliott JD, Dos'Santos T
Am J Sports Med 2024 May;52(6):1608-1616. Epub 2024 Mar 28 doi: 10.1177/03635465241235525. PMID: 38544464Free PMC Article
Barros MC, Altmayer S, Carvalho AR, Rodrigues R, Zanon M, Mohammed TL, Patel P, Mohammad AA, Mehrad B, Chatkin JM, Hochhegger B
Lung 2022 Aug;200(4):447-455. Epub 2022 Jun 25 doi: 10.1007/s00408-022-00550-1. PMID: 35751660Free PMC Article
Benchoufi M, Matzner-Lober E, Molinari N, Jannot AS, Soyer P
Diagn Interv Imaging 2020 Oct;101(10):639-641. Epub 2020 Sep 18 doi: 10.1016/j.diii.2020.09.001. PMID: 32958434
Morgan GA, Harmon RJ
J Am Acad Child Adolesc Psychiatry 2001 Aug;40(8):973-6. doi: 10.1097/00004583-200108000-00020. PMID: 11501698
Pope C, Ziebland S, Mays N
BMJ 2000 Jan 8;320(7227):114-6. doi: 10.1136/bmj.320.7227.114. PMID: 10625273Free PMC Article

Recent systematic reviews

Balboni TA, VanderWeele TJ, Doan-Soares SD, Long KNG, Ferrell BR, Fitchett G, Koenig HG, Bain PA, Puchalski C, Steinhauser KE, Sulmasy DP, Koh HK
JAMA 2022 Jul 12;328(2):184-197. doi: 10.1001/jama.2022.11086. PMID: 35819420
Hennink M, Kaiser BN
Soc Sci Med 2022 Jan;292:114523. Epub 2021 Nov 2 doi: 10.1016/j.socscimed.2021.114523. PMID: 34785096
Assi L, Chamseddine F, Ibrahim P, Sabbagh H, Rosman L, Congdon N, Evans J, Ramke J, Kuper H, Burton MJ, Ehrlich JR, Swenor BK
JAMA Ophthalmol 2021 May 1;139(5):526-541. doi: 10.1001/jamaophthalmol.2021.0146. PMID: 33576772Free PMC Article
Kim H, Sefcik JS, Bradway C
Res Nurs Health 2017 Feb;40(1):23-42. Epub 2016 Sep 30 doi: 10.1002/nur.21768. PMID: 27686751Free PMC Article
Kallio H, Pietilä AM, Johnson M, Kangasniemi M
J Adv Nurs 2016 Dec;72(12):2954-2965. Epub 2016 Jun 23 doi: 10.1111/jan.13031. PMID: 27221824

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