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Findings from the Morquio A Registry Study (MARS) after 6 years: Long-term outcomes of MPS IVA patients treated with elosulfase alfa.
Mitchell JJ, Burton BK, Bober MB, Campeau PM, Cohen S, Dosenovic S, Ellaway C, Bhattacharya K, Guffon N, Hinds D, Lail A, Lin SP, Magner M, Raiman J, Schwartz-Sagi L, Stepien KM. Mitchell JJ, et al. Among authors: ellaway c. Mol Genet Metab. 2022 Sep-Oct;137(1-2):164-172. doi: 10.1016/j.ymgme.2022.08.007. Epub 2022 Aug 30. Mol Genet Metab. 2022. PMID: 36087504 Free article.
Rett syndrome: clinical review and genetic update.
Weaving LS, Ellaway CJ, Gécz J, Christodoulou J. Weaving LS, et al. Among authors: ellaway cj. J Med Genet. 2005 Jan;42(1):1-7. doi: 10.1136/jmg.2004.027730. J Med Genet. 2005. PMID: 15635068 Free PMC article. Review.
The diagnosis of autism in a female: could it be Rett syndrome?
Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H. Young DJ, et al. Among authors: ellaway c. Eur J Pediatr. 2008 Jun;167(6):661-9. doi: 10.1007/s00431-007-0569-x. Epub 2007 Aug 8. Eur J Pediatr. 2008. PMID: 17684768
Diagnosis of Rett syndrome: can a radiograph help?
Glasson EJ, Bower C, Thomson MR, Fyfe S, Leonard S, Rousham E, Christodoulou J, Ellaway C, Leonard H. Glasson EJ, et al. Among authors: ellaway c. Dev Med Child Neurol. 1998 Nov;40(11):737-42. doi: 10.1111/j.1469-8749.1998.tb12341.x. Dev Med Child Neurol. 1998. PMID: 9881802 Free article.
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Guidelines for reporting clinical features in cases with MECP2 mutations.
Kerr AM, Nomura Y, Armstrong D, Anvret M, Belichenko PV, Budden S, Cass H, Christodoulou J, Clarke A, Ellaway C, d'Esposito M, Francke U, Hulten M, Julu P, Leonard H, Naidu S, Schanen C, Webb T, Engerstrom IW, Yamashita Y, Segawa M. Kerr AM, et al. Among authors: ellaway c. Brain Dev. 2001 Jul;23(4):208-11. doi: 10.1016/s0387-7604(01)00193-0. Brain Dev. 2001. PMID: 11376997
107 results