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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.
Editorial: Inherited Protein Glycosylation Defects in Humans.
Jezela-Stanek A, Stepien KM, Tylki-Szymanska A. Jezela-Stanek A, et al. Among authors: stepien km. Front Genet. 2022 Mar 14;13:851438. doi: 10.3389/fgene.2022.851438. eCollection 2022. Front Genet. 2022. PMID: 35368693 Free PMC article. No abstract available.
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: stepien km. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 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.
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Seker Yilmaz B, Baruteau J, Chakrapani A, Champion M, Chronopoulou E, Claridge LC, Daly A, Davies C, Davison J, Dhawan A, Grunewald S, Gupte GL, Heaton N, Lemonde H, McKiernan P, Mills P, Morris AAM, Mundy H, Pierre G, Rajwal S, Sivananthan S, Sreekantam S, Stepien KM, Vara R, Yeo M, Gissen P. Seker Yilmaz B, et al. Among authors: stepien km. Mol Genet Metab Rep. 2023 Nov 5;37:101020. doi: 10.1016/j.ymgmr.2023.101020. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053940 Free PMC article.
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.
103 results