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Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.
Ali Pervaiz M, Patterson MC, Struys EA, Salomons GS, Jakobs C, Oglesbee D, Kirmani S. Ali Pervaiz M, et al. Among authors: oglesbee d. J Neurol. 2011 Aug;258(8):1564-5. doi: 10.1007/s00415-011-5977-1. Epub 2011 Mar 8. J Neurol. 2011. PMID: 21384162 Free article. No abstract available.
Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study.
Qureshi MY, Patterson MC, Clark V, Johnson JN, Moutvic MA, Driscoll SW, Kemppainen JL, Huston J 3rd, Anderson JR, Badley AD, Tebben PJ, Wackel P, Oglesbee D, Glockner J, Schreiner G, Dugar S, Touchette JC, Gavrilova RH. Qureshi MY, et al. Among authors: oglesbee d. J Inherit Metab Dis. 2021 Mar;44(2):502-514. doi: 10.1002/jimd.12285. Epub 2020 Aug 31. J Inherit Metab Dis. 2021. PMID: 32677106 Clinical Trial.
An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid.
Blackburn PR, Carter JM, Oglesbee D, Westendorf JJ, Neff BA, Stichel D, Tsen DW, Gavrilova RH, Wesseling P, von Deimling A, Caulfield TR, Klee EW, Pusch S, Inwards CY. Blackburn PR, et al. Among authors: oglesbee d. HGG Adv. 2020 Aug 24;1(1):100006. doi: 10.1016/j.xhgg.2020.100006. eCollection 2020 Oct 22. HGG Adv. 2020. PMID: 35047830 Free PMC article.
A new D-galactose treatment monitoring index for PGM1-CDG.
Perales-Clemente E, Liedtke K, Studinski A, Radenkovic S, Gavrilov D, Oglesbee D, Matern D, Rinaldo P, Tortorelli S, Morava E, Raymond K. Perales-Clemente E, et al. Among authors: oglesbee d. J Inherit Metab Dis. 2021 Sep;44(5):1263-1271. doi: 10.1002/jimd.12406. Epub 2021 Jun 22. J Inherit Metab Dis. 2021. PMID: 34043239
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S. Smith EH, et al. Among authors: oglesbee d. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4. J Inherit Metab Dis. 2010. PMID: 20821052
158 results