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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

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
Kim S, Jang H, Choi SJ, Kim HJ, Lee JH, Kwon M
Dement Geriatr Cogn Disord 2021;50(6):585-591. Epub 2022 Jan 18 doi: 10.1159/000519070. PMID: 35240660
Wright-St Clair VA, Neville S, Forsyth V, White L, Napier S
Australas J Ageing 2017 Jun;36(2):114-123. Epub 2017 Mar 4 doi: 10.1111/ajag.12379. PMID: 28258607Free PMC Article
Boyer D, Gagne J, Kesselheim JC
Clin Pediatr (Phila) 2017 Nov;56(13):1193-1200. Epub 2016 Dec 26 doi: 10.1177/0009922816684604. PMID: 28024414
Watanabe K, Cho YD
Arch Oral Biol 2014 Aug;59(8):855-70. Epub 2014 May 14 doi: 10.1016/j.archoralbio.2014.05.003. PMID: 24880501Free PMC Article

Diagnosis

Kim S, Jang H, Choi SJ, Kim HJ, Lee JH, Kwon M
Dement Geriatr Cogn Disord 2021;50(6):585-591. Epub 2022 Jan 18 doi: 10.1159/000519070. PMID: 35240660
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
Klingenhoefer S, Krekelberg B
J Vis 2017 Aug 1;17(9):16. doi: 10.1167/17.9.16. PMID: 28837962Free PMC Article
Ford E, Lee S, Shakespeare J, Ayers S
Br J Gen Pract 2017 Aug;67(661):e538-e546. Epub 2017 Jul 17 doi: 10.3399/bjgp17X691889. PMID: 28716994Free PMC Article
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

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
Watson SI, Girling A, Hemming K
Stat Med 2021 Feb 28;40(5):1133-1146. Epub 2020 Nov 30 doi: 10.1002/sim.8828. PMID: 33258219
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
Bhattacharya S, Makin M
Med Leg J 2023 Mar;91(1):39-41. Epub 2022 Oct 2 doi: 10.1177/00258172221113982. PMID: 36189861
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

Koyama Y, Nakashima K, Orihara S, Tsunoda H, Kimura F, Uenaka N, Ban K, Michishita Y, Kanemaki Y, Kurihara A, Tawaraya K, Taguri M, Ishikawa T, Uematsu T
Breast Cancer 2024 Jul;31(4):671-683. Epub 2024 Apr 15 doi: 10.1007/s12282-024-01580-8. PMID: 38619787
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
Dhakar MB, Sheikh ZB, Desai M, Desai RA, Sternberg EJ, Popescu C, Baron-Lee J, Rampal N, Hirsch LJ, Gilmore EJ, Maciel CB
J Clin Neurophysiol 2023 Sep 1;40(6):553-561. Epub 2022 Feb 3 doi: 10.1097/WNP.0000000000000919. PMID: 35239553
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

Hennink M, Kaiser BN
Soc Sci Med 2022 Jan;292:114523. Epub 2021 Nov 2 doi: 10.1016/j.socscimed.2021.114523. PMID: 34785096
Memon AR, Gupta CC, Crowther ME, Ferguson SA, Tuckwell GA, Vincent GE
Sleep Med Rev 2021 Aug;58:101482. Epub 2021 Mar 20 doi: 10.1016/j.smrv.2021.101482. PMID: 33864990
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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