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Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17.
J Med Genet. 2015.
PMID: 26084283
Free PMC article.
Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.
Stranneheim H, Engvall M, Naess K, Lesko N, Larsson P, Dahlberg M, Andeer R, Wredenberg A, Freyer C, Barbaro M, Bruhn H, Emahazion T, Magnusson M, Wibom R, Zetterström RH, Wirta V, von Döbeln U, Wedell A.
Stranneheim H, et al. Among authors: andeer r.
BMC Genomics. 2014 Dec 11;15(1):1090. doi: 10.1186/1471-2164-15-1090.
BMC Genomics. 2014.
PMID: 25495354
Free PMC article.
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