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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: chan a. Epilepsia. 2023 Jun;64(6):1612-1626. doi: 10.1111/epi.17596. Epub 2023 Apr 10. Epilepsia. 2023. PMID: 36994644
Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.
Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S. Khaikin Y, et al. Among authors: chan a. Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16. Eur J Paediatr Neurol. 2018. PMID: 29506905
Pre-school neurocognitive and functional outcomes after liver transplant in children with early onset urea cycle disorders, maple syrup urine disease, and propionic acidemia: An inception cohort matched-comparison study.
Jain-Ghai S, Joffe AR, Bond GY, Siriwardena K, Chan A, Yap JYK, Hajihosseini M, Dinu IA, Acton BV, Robertson CMT; Western Canadian Complex Pediatric Therapies Follow‐up Group. Jain-Ghai S, et al. Among authors: chan a. JIMD Rep. 2020 Jan 27;52(1):43-54. doi: 10.1002/jmd2.12095. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154059 Free PMC article.
Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.
Williams I, Pandey S, Haller W, Huynh HQ, Chan A, Düeker G, Bettels R, Peyrin-Biroulet L, Dike CR, DeGeeter C, Smith D, Al Eisa N, Platt N, Marquardt T, Schwerd T, Platt FM, Uhlig HH. Williams I, et al. Among authors: chan a. Wellcome Open Res. 2022 Jan 11;7:11. doi: 10.12688/wellcomeopenres.16986.1. eCollection 2022. Wellcome Open Res. 2022. PMID: 35694196 Free PMC article.
9,109 results