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Non-syndromic retinal dystrophy associated with biallelic variation of SUMF1 and reduced leukocyte sulfatase activity.
Lin S, Robson AG, Thompson DA, Stepien KM, Lachmann R, Footitt E, Czyz O, Chandrasekhar S, Schiff E, Iosifidis C, Black GC, Michaelides M, Mahroo OA, Arno G, Webster AR. Lin S, et al. Among authors: stepien km. Clin Genet. 2024 Oct;106(4):505-511. doi: 10.1111/cge.14573. Epub 2024 Jun 11. Clin Genet. 2024. PMID: 38863195 Free PMC article.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Elkhateeb N, Olivieri G, Siri B, Boyd S, Stepien KM, Sharma R, Morris AAM, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Bernhardt I, Sudakhar S, Chan A, Mills P, Ridout D, Gissen P, Dionisi-Vici C, Baruteau J. Elkhateeb N, et al. Among authors: stepien km. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
Gurung S, Karamched S, Perocheau D, Seunarine KK, Baldwin T, Alrashidi H, Touramanidou L, Duff C, Elkhateeb N, Stepien KM, Sharma R, Morris A, Hartley T, Crowther L, Grunewald S, Cleary M, Mundy H, Chakrapani A, Batzios S, Davison J, Footitt E, Tuschl K, Lachmann R, Murphy E, Santra S, Uudelepp ML, Yeo M, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Frassetto A, Heales S, Mills PB, Gissen P, Clayden JD, Clark CA, Eaton S, Kalber TL, Baruteau J. Gurung S, et al. Among authors: stepien km. J Inherit Metab Dis. 2024 Nov;47(6):1213-1227. doi: 10.1002/jimd.12691. Epub 2023 Dec 4. J Inherit Metab Dis. 2024. PMID: 38044746 Free PMC article.
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V, Sokolová J, Morris AAM, Pavlíková M, Gleich F, Kölker S, Krijt J, Dionisi-Vici C, Baumgartner MR, Blom HJ, Huemer M; E-HOD consortium. Kožich V, et al. J Inherit Metab Dis. 2021 May;44(3):677-692. doi: 10.1002/jimd.12338. Epub 2020 Dec 28. J Inherit Metab Dis. 2021. PMID: 33295057 Free PMC article.
GM1 Gangliosidosis-A Mini-Review.
Nicoli ER, Annunziata I, d'Azzo A, Platt FM, Tifft CJ, Stepien KM. Nicoli ER, et al. Among authors: stepien km. Front Genet. 2021 Sep 3;12:734878. doi: 10.3389/fgene.2021.734878. eCollection 2021. Front Genet. 2021. PMID: 34539759 Free PMC article. Review.
Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.
Puente-Ruiz N, Ellis I, Bregu M, Chen C, Church HJ, Tylee KL, Gladston S, Hackett R, Oldham A, Virk S, Hendriksz C, Morris AAM, Jones SA, Stepien KM. Puente-Ruiz N, et al. Among authors: stepien km. Mol Genet Metab Rep. 2023 Sep 27;37:101009. doi: 10.1016/j.ymgmr.2023.101009. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053939 Free PMC article.
99 results