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Page 1
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.
Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A. Wilcken B, et al. Among authors: mcgill j. Pediatrics. 2009 Aug;124(2):e241-8. doi: 10.1542/peds.2008-0586. Epub 2009 Jul 20. Pediatrics. 2009. PMID: 19620191
Adult-onset arginase deficiency.
Cowley DM, Bowling FG, McGill JJ, van Dongen J, Morris D. Cowley DM, et al. Among authors: mcgill jj. J Inherit Metab Dis. 1998 Aug;21(6):677-8. doi: 10.1023/a:1005492819527. J Inherit Metab Dis. 1998. PMID: 9762606 No abstract available.
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: mcgill j. 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.
Screening for cystic fibrosis: use of delta F508 mutation.
Bowling FG, McGill JJ, Shepherd RW, Danks DM. Bowling FG, et al. Among authors: mcgill jj. Lancet. 1990 Apr 14;335(8694):925-6. doi: 10.1016/0140-6736(90)90534-c. Lancet. 1990. PMID: 1970022 No abstract available.
823 results