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Year | Number of Results |
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Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency.
Am J Hum Genet. 2001 Jun;68(6):1408-18. doi: 10.1086/320602. Epub 2001 May 8.
Am J Hum Genet. 2001.
PMID: 11349232
Free PMC article.
Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, Kjems J, Andresen BS.
Nielsen KB, et al.
Am J Hum Genet. 2007 Mar;80(3):416-32. doi: 10.1086/511992. Epub 2007 Jan 18.
Am J Hum Genet. 2007.
PMID: 17273963
Free PMC article.
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Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
Al-Hassnan ZN, Imtiaz F, Al-Amoudi M, Rahbeeni Z, Al-Sayed M, Al-Owain M, Al-Zaidan H, Al-Odaib A, Rashed MS.
Al-Hassnan ZN, et al.
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S263-7. doi: 10.1007/s10545-010-9143-1. Epub 2010 Jun 22.
J Inherit Metab Dis. 2010.
PMID: 20567907
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Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
Nichols MJ, Saavedra-Matiz CA, Pass KA, Caggana M.
Nichols MJ, et al.
Am J Med Genet A. 2008 Mar 1;146A(5):610-9. doi: 10.1002/ajmg.a.32192.
Am J Med Genet A. 2008.
PMID: 18241067
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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T, Sæves I, Klingenberg C, Jørgensen J, Kristensen E, Gunnarsdottir G, Hansen EV, Strand J, Lundman E, Ferdinandusse S, Salvador CL, Woldseth B, Bliksrud YT, Sagredo C, Olsen ØE, Berge MC, Trømborg AK, Ziegler A, Zhang JH, Sørgjerd LK, Ytre-Arne M, Hogner S, Løvoll SM, Kløvstad Olavsen MR, Navarrete D, Gaup HJ, Lilje R, Zetterström RH, Stray-Pedersen A, Rootwelt T, Rinaldo P, Rowe AD, Pettersen RD.
Tangeraas T, et al.
Int J Neonatal Screen. 2020 Jun 27;6(3):51. doi: 10.3390/ijns6030051. eCollection 2020 Sep.
Int J Neonatal Screen. 2020.
PMID: 33123633
Free PMC article.
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