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Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases.
Deardorff MA, Gaddipati H, Kaplan P, Sanchez-Lara PA, Sondheimer N, Spinner NB, Hakonarson H, Ficicioglu C, Ganesh J, Markello T, Loechelt B, Zand DJ, Yudkoff M, Lichter-Konecki U. Deardorff MA, et al. Among authors: ficicioglu c. Mol Genet Metab. 2008 Aug;94(4):498-502. doi: 10.1016/j.ymgme.2008.04.011. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524659 Free PMC article.
Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.
Bhoj EJ, Li M, Ahrens-Nicklas R, Pyle LC, Wang J, Zhang VW, Clarke C, Wong LJ, Sondheimer N, Ficicioglu C, Yudkoff M. Bhoj EJ, et al. Among authors: ficicioglu c. JIMD Rep. 2015;19:59-66. doi: 10.1007/8904_2014_364. Epub 2015 Feb 15. JIMD Rep. 2015. PMID: 25681081 Free PMC article.
Adolescent presentations of inborn errors of metabolism.
Ahrens-Nicklas RC, Slap G, Ficicioglu C. Ahrens-Nicklas RC, et al. Among authors: ficicioglu c. J Adolesc Health. 2015 May;56(5):477-82. doi: 10.1016/j.jadohealth.2015.01.008. J Adolesc Health. 2015. PMID: 25907648 Review.
180 results