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Page 1
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: sreekantam s. 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.
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Seker Yilmaz B, et al. Among authors: sreekantam s. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.
Broomfield A, Davison J, Roberts J, Stewart C, Hensman P, Beesley C, Tylee K, Rust S, Schwahn B, Jameson E, Vijay S, Santra S, Sreekantam S, Ramaswami U, Chakrapani A, Raiman J, Cleary MA, Jones SA. Broomfield A, et al. Among authors: sreekantam s. Mol Genet Metab. 2020 Feb;129(2):98-105. doi: 10.1016/j.ymgme.2019.07.016. Epub 2019 Jul 30. Mol Genet Metab. 2020. PMID: 31383595
Efficacy of early haematopoietic stem cell transplantation versus enzyme replacement therapy on neurological progression in severe Hunter syndrome: Case report of siblings and literature review.
Sreekantam S, Smith L, Stewart C, Kearney S, Lawson S, Raiman J, Vijay S, Santra S. Sreekantam S, et al. Mol Genet Metab Rep. 2022 May 31;32:100881. doi: 10.1016/j.ymgmr.2022.100881. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35663302 Free PMC article.
How to use a controlled fast to investigate hypoglycaemia.
Sreekantam S, Preece MA, Vijay S, Raiman J, Santra S. Sreekantam S, et al. Arch Dis Child Educ Pract Ed. 2017 Feb;102(1):28-36. doi: 10.1136/archdischild-2015-308702. Epub 2016 Aug 24. Arch Dis Child Educ Pract Ed. 2017. PMID: 27557839 Review.
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
Carling RS, Hedgethorne K, Chakrapani A, Hall PL, Flynn N, Greenfield T, Moat SJ, Ssali J, Shakespeare L, Taj N, Wu THY, Anderson M, Ghosh A, Lemonde H, Pierre G, Sharrard M, Sreekantam S, Bonham JR. Carling RS, et al. Among authors: sreekantam s. Int J Neonatal Screen. 2024 Mar 13;10(1):24. doi: 10.3390/ijns10010024. Int J Neonatal Screen. 2024. PMID: 38535128 Free PMC article.
24 results