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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2004 3
2005 1
2007 2
2008 1
2009 2
2010 1
2012 2
2013 3
2014 1
2015 2
2019 1
2024 0

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18 results

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Page 1
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
Knerr I, Colombo R, Urquhart J, Morais A, Merinero B, Oyarzabal A, Pérez B, Jones SA, Perveen R, Preece MA, Rogers Y, Treacy EP, Mayne P, Zampino G, MacKinnon S, Wassmer E, Yue WW, Robinson I, Rodríguez-Pombo P, Olpin SE, Banka S. Knerr I, et al. Among authors: olpin se. J Inherit Metab Dis. 2019 Sep;42(5):809-817. doi: 10.1002/jimd.12135. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177572 Free article.
A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.
Alston CL, Ceccatelli Berti C, Blakely EL, Oláhová M, He L, McMahon CJ, Olpin SE, Hargreaves IP, Nolli C, McFarland R, Goffrini P, O'Sullivan MJ, Taylor RW. Alston CL, et al. Among authors: olpin se. Hum Genet. 2015 Aug;134(8):869-79. doi: 10.1007/s00439-015-1568-z. Epub 2015 May 26. Hum Genet. 2015. PMID: 26008905 Free PMC article.
The investigation and management of metabolic myopathies.
Olpin SE, Murphy E, Kirk RJ, Taylor RW, Quinlivan R. Olpin SE, et al. J Clin Pathol. 2015 Jun;68(6):410-7. doi: 10.1136/jclinpath-2014-202808. Epub 2015 Apr 15. J Clin Pathol. 2015. PMID: 25878327
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS. Olsen RK, et al. Among authors: olpin se. Hum Mutat. 2014 Jan;35(1):86-95. doi: 10.1002/humu.22455. Epub 2013 Oct 28. Hum Mutat. 2014. PMID: 24123825
A vitamin B-12 supplement of 500 μg/d for eight weeks does not normalize urinary methylmalonic acid or other biomarkers of vitamin B-12 status in elderly people with moderately poor vitamin B-12 status.
Hill MH, Flatley JE, Barker ME, Garner CM, Manning NJ, Olpin SE, Moat SJ, Russell J, Powers HJ. Hill MH, et al. Among authors: olpin se. J Nutr. 2013 Feb;143(2):142-7. doi: 10.3945/jn.112.169193. Epub 2012 Dec 12. J Nutr. 2013. PMID: 23236022 Free article. Clinical Trial.
18 results