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180 results

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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. Among authors: ficicioglu c. 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.
Brain magnetic resonance imaging findings in 49,XXXXY syndrome.
Hoffman TL, Vossough A, Ficicioglu C, Visootsak J. Hoffman TL, et al. Among authors: ficicioglu c. Pediatr Neurol. 2008 Jun;38(6):450-3. doi: 10.1016/j.pediatrneurol.2008.03.004. Pediatr Neurol. 2008. PMID: 18486832 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.
An 8-year-old girl with abdominal pain and mental status changes.
Ahrens-Nicklas RC, Edmondson AC, Ficicioglu C. Ahrens-Nicklas RC, et al. Among authors: ficicioglu c. Pediatr Emerg Care. 2015 Jun;31(6):459-62. doi: 10.1097/PEC.0000000000000504. Pediatr Emerg Care. 2015. PMID: 26035505 Review. No abstract available.
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. Among authors: ficicioglu c. JIMD Rep. 2016;30:33-37. doi: 10.1007/8904_2016_538. Epub 2016 Feb 27. JIMD Rep. 2016. PMID: 26920905 Free PMC article.
Pathogenesis and treatment of spine disease in the mucopolysaccharidoses.
Peck SH, Casal ML, Malhotra NR, Ficicioglu C, Smith LJ. Peck SH, et al. Among authors: ficicioglu c. Mol Genet Metab. 2016 Aug;118(4):232-43. doi: 10.1016/j.ymgme.2016.06.002. Epub 2016 Jun 4. Mol Genet Metab. 2016. PMID: 27296532 Free PMC article. Review.
180 results