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The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.
Flanagan JM, McMahon G, Brendan Chia SH, Fitzpatrick P, Tighe O, O'Neill C, Briones P, Gort L, Kozak L, Magee A, Naughten E, Radomyska B, Schwartz M, Shin JS, Strobl WM, Tyfield LA, Waterham HR, Russell H, Bertorelle G, Reichardt JK, Mayne PD, Croke DT. Flanagan JM, et al. Among authors: waterham hr. Heredity (Edinb). 2010 Feb;104(2):148-54. doi: 10.1038/hdy.2009.84. Epub 2009 Jul 29. Heredity (Edinb). 2010. PMID: 19639008
Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency.
Fitzsimons PE, Alston CL, Bonnen PE, Hughes J, Crushell E, Geraghty MT, Tetreault M, O'Reilly P, Twomey E, Sheikh Y, Walsh R, Waterham HR, Ferdinandusse S, Wanders RJA, Taylor RW, Pitt JJ, Mayne PD. Fitzsimons PE, et al. Among authors: waterham hr. Am J Med Genet A. 2018 May;176(5):1115-1127. doi: 10.1002/ajmg.a.38658. Epub 2018 Mar 25. Am J Med Genet A. 2018. PMID: 29575569 Free PMC article.
Identification of novel mutations in classical galactosemia.
Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR. Bosch AM, et al. Among authors: waterham hr. Hum Mutat. 2005 May;25(5):502. doi: 10.1002/humu.9330. Hum Mutat. 2005. PMID: 15841485
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Coman D, Vissers LELM, Riley LG, Kwint MP, Hauck R, Koster J, Geuer S, Hopkins S, Hallinan B, Sweetman L, Engelke UFH, Burrow TA, Cardinal J, McGill J, Inwood A, Gurnsey C, Waterham HR, Christodoulou J, Wevers RA, Pitt J. Coman D, et al. Among authors: waterham hr. Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14. Am J Hum Genet. 2018. PMID: 29909962 Free PMC article.
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.
Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, Blom HJ. Hagemeijer MC, et al. Among authors: waterham hr. JIMD Rep. 2021 May 7;61(1):12-18. doi: 10.1002/jmd2.12223. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485012 Free PMC article.
319 results