Ficicioglu C - Search Results

1

Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report.

Coughlin CR 2nd, Hyland K, Randall R, Ficicioglu C. Coughlin CR 2nd, et al. Among authors: ficicioglu c. JIMD Rep. 2013;10:53-6. doi: 10.1007/8904_2012_202. Epub 2012 Dec 29. JIMD Rep. 2013. PMID: 23430801 Free PMC article.

2

Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.

Ficicioglu C, Coughlin CR 2nd, Bennett MJ, Yudkoff M. Ficicioglu C, et al. J Pediatr. 2010 Mar;156(3):492-4. doi: 10.1016/j.jpeds.2009.10.031. Epub 2010 Jan 8. J Pediatr. 2010. PMID: 20056241

3

Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.

Coughlin CR 2nd, Ficicioglu C. Coughlin CR 2nd, et al. Among authors: ficicioglu c. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S129-31. doi: 10.1007/s10545-009-9041-6. Epub 2010 Jan 27. J Inherit Metab Dis. 2010. PMID: 20107901

4

A Pilot Study of Fluorodeoxyglucose Positron Emission Tomography Findings in Patients with Phenylketonuria before and during Sapropterin Supplementation.

Ficicioglu C, Dubroff JG, Thomas N, Gallagher PR, Burfield J, Hussa C, Randall R, Zhuang H. Ficicioglu C, et al. J Clin Neurol. 2013 Jul;9(3):151-6. doi: 10.3988/jcn.2013.9.3.151. Epub 2013 Jul 1. J Clin Neurol. 2013. PMID: 23894238 Free PMC article.

5

Thirteen Patients with MAT1A Mutations Detected Through Newborn Screening: 13 Years' Experience.

Chadwick S, Fitzgerald K, Weiss B, Ficicioglu C. Chadwick S, et al. Among authors: ficicioglu c. JIMD Rep. 2014;14:71-6. doi: 10.1007/8904_2013_286. Epub 2014 Jan 21. JIMD Rep. 2014. PMID: 24445979 Free PMC article.

6

Severe 5,10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy.

D'Aco KE, Bearden D, Watkins D, Hyland K, Rosenblatt DS, Ficicioglu C. D'Aco KE, et al. Among authors: ficicioglu c. Pediatr Neurol. 2014 Aug;51(2):266-70. doi: 10.1016/j.pediatrneurol.2014.04.005. Epub 2014 Apr 13. Pediatr Neurol. 2014. PMID: 25079578

7

Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.

Ahrens-Nicklas RC, Serdaroglu E, Muraresku C, Ficicioglu C. Ahrens-Nicklas RC, et al. Among authors: ficicioglu c. JIMD Rep. 2015;23:71-5. doi: 10.1007/8904_2015_429. Epub 2015 Mar 13. JIMD Rep. 2015. PMID: 25772322 Free PMC article.

8

Low bone mineral density is a common finding in patients with homocystinuria.

Weber DR, Coughlin C, Brodsky JL, Lindstrom K, Ficicioglu C, Kaplan P, Freehauf CL, Levine MA. Weber DR, et al. Among authors: ficicioglu c. Mol Genet Metab. 2016 Mar;117(3):351-4. doi: 10.1016/j.ymgme.2015.12.003. Epub 2015 Dec 10. Mol Genet Metab. 2016. PMID: 26689745 Free PMC article.

9

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.

10

Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency.

Edmondson AC, Salant J, Ierardi-Curto LA, Ficicioglu C. Edmondson AC, et al. Among authors: ficicioglu c. JIMD Rep. 2017;33:93-97. doi: 10.1007/8904_2016_528. Epub 2016 Apr 12. JIMD Rep. 2017. PMID: 27067077 Free PMC article.

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