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Adolescent presentations of inborn errors of metabolism.
Ahrens-Nicklas RC, Slap G, Ficicioglu C. Ahrens-Nicklas RC, et al. J Adolesc Health. 2015 May;56(5):477-82. doi: 10.1016/j.jadohealth.2015.01.008. J Adolesc Health. 2015. PMID: 25907648 Review.
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Ganetzky RD, Bloom K, Ahrens-Nicklas R, Edmondson A, Deardorff MA, Bennett MJ, Ficicioglu C. Ganetzky RD, et al. JIMD Rep. 2016;30:33-37. doi: 10.1007/8904_2016_538. Epub 2016 Feb 27. JIMD Rep. 2016. PMID: 26920905 Free PMC article.
Response to van Rijt et al.
Ahrens-Nicklas RC, Pyle LC, Ficicioglu C. Ahrens-Nicklas RC, et al. Genet Med. 2016 Dec;18(12):1324. doi: 10.1038/gim.2016.144. Epub 2016 Sep 22. Genet Med. 2016. PMID: 27657679 Free article. No abstract available.
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.
Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, Klepper J, Lee M, Olsen A, Parenti G, Vossough A, Vanderver A, Adang LA. Ahrens-Nicklas R, et al. Mol Genet Metab. 2018 Mar;123(3):337-346. doi: 10.1016/j.ymgme.2018.01.005. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29397290 Free PMC article.
63 results