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

Year Number of Results
1993 1
1998 1
1999 3
2000 3
2001 6
2002 3
2003 4
2004 6
2005 7
2006 5
2007 3
2008 6
2009 2
2010 8
2011 3
2012 3
2013 8
2014 13
2015 14
2016 14
2017 16
2018 17
2019 15
2020 37
2021 34
2022 13
2023 11
2024 19
2025 19
2026 13

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267 results

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Page 1
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK. Sharma R, et al. Among authors: oglesbee d. J Clin Invest. 2021 Jan 19;131(2):e136055. doi: 10.1172/JCI136055. J Clin Invest. 2021. PMID: 33463549 Free PMC article. Clinical Trial.
International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E. Altassan R, et al. Among authors: raymond k. J Inherit Metab Dis. 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. J Inherit Metab Dis. 2019. PMID: 30740725
Acylcarnitine profile analysis.
Rinaldo P, Cowan TM, Matern D. Rinaldo P, et al. Among authors: matern d. Genet Med. 2008 Feb;10(2):151-6. doi: 10.1097/GIM.0b013e3181614289. Genet Med. 2008. PMID: 18281923 Free article.
Short-Chain Acyl-CoA Dehydrogenase Deficiency.
Wolfe L, Jethva R, Oglesbee D, Vockley J. Wolfe L, et al. Among authors: oglesbee d. 2011 Sep 22 [updated 2025 Sep 11]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2011 Sep 22 [updated 2025 Sep 11]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 21938826 Free Books & Documents. Review.
Laboratory and metabolic investigations.
Morava E, Oglesbee D. Morava E, et al. Among authors: oglesbee d. Handb Clin Neurol. 2023;194:167-172. doi: 10.1016/B978-0-12-821751-1.00012-9. Handb Clin Neurol. 2023. PMID: 36813311 Review.
εγ-Thalassemia, a New Hemoglobinopathy Category.
Oliveira JL, Thompson CH, Saravanaperumal SA, Koganti T, Jenkinson G, Hein MS, Kohorst MA, Hasadsri L, Nguyen PL, Matern D, Kipp BR, Klee EW, Wieben ED, Hoyer JD, Rangan A. Oliveira JL, et al. Among authors: matern d. Clin Chem. 2023 Jul 5;69(7):711-717. doi: 10.1093/clinchem/hvad038. Clin Chem. 2023. PMID: 37086467 Free article.
Oral D-galactose supplementation in PGM1-CDG.
Wong SY, Gadomski T, van Scherpenzeel M, Honzik T, Hansikova H, Holmefjord KSB, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Hertecant J, Preston G, Jaeken J, Peeters N, Perez S, Nguyen DD, Crivelly K, Emmerzaal T, Gibson KM, Raymond K, Abu Bakar N, Foulquier F, Poschet G, Ackermann AM, He M, Lefeber DJ, Thiel C, Kozicz T, Morava E. Wong SY, et al. Among authors: raymond k. Genet Med. 2017 Nov;19(11):1226-1235. doi: 10.1038/gim.2017.41. Epub 2017 Jun 15. Genet Med. 2017. PMID: 28617415 Free PMC article. Clinical Trial.
Fatty acid oxidation disorders.
Rinaldo P, Matern D, Bennett MJ. Rinaldo P, et al. Among authors: matern d. Annu Rev Physiol. 2002;64:477-502. doi: 10.1146/annurev.physiol.64.082201.154705. Annu Rev Physiol. 2002. PMID: 11826276 Review.
Mass spectrometric analysis of chondroitin sulfate-linked peptides.
Ramarajan MG, Saraswat M, Budhraja R, Garapati K, Raymond K, Pandey A. Ramarajan MG, et al. Among authors: raymond k. J Proteins Proteom. 2022;13(4):187-203. doi: 10.1007/s42485-022-00092-3. Epub 2022 Oct 2. J Proteins Proteom. 2022. PMID: 36213313 Free PMC article.
267 results