Ficicioglu C - Search Results

1

3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.

Ficicioglu C, Payan I. Ficicioglu C, et al. Pediatrics. 2006 Dec;118(6):2555-6. doi: 10.1542/peds.2006-1659. Pediatrics. 2006. PMID: 17142544

2

Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.

Hoffman TL, Simon EM, Ficicioglu C. Hoffman TL, et al. Among authors: ficicioglu c. Eur J Pediatr. 2005 May;164(5):298-301. doi: 10.1007/s00431-005-1629-8. Epub 2005 Feb 15. Eur J Pediatr. 2005. PMID: 15711955

3

Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.

Ficicioglu C, Chrisant MR, Payan I, Chace DH. Ficicioglu C, et al. Pediatr Cardiol. 2005 Nov-Dec;26(6):881-3. doi: 10.1007/s00246-005-1045-x. Pediatr Cardiol. 2005. PMID: 16078122

4

Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.

Campbell CD, Ganesh J, Ficicioglu C. Campbell CD, et al. Among authors: ficicioglu c. Haematologica. 2005 Dec;90(12 Suppl):ECR45. Haematologica. 2005. PMID: 16464760

5

Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening.

Ficicioglu C, Hussa C. Ficicioglu C, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S187-90. doi: 10.1007/s10545-009-1143-7. Epub 2009 Apr 4. J Inherit Metab Dis. 2009. PMID: 19333779

6

Failure to thrive: when to suspect inborn errors of metabolism.

Ficicioglu C, An Haack K. Ficicioglu C, et al. Pediatrics. 2009 Sep;124(3):972-9. doi: 10.1542/peds.2008-3724. Epub 2009 Aug 10. Pediatrics. 2009. PMID: 19706585

7

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

8

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

9

Severe metabolic acidosis in a newborn with an abnormal newborn screen.

Schrier SA, Ficicioglu C. Schrier SA, et al. Among authors: ficicioglu c. Clin Pediatr (Phila). 2012 May;51(5):518-20. doi: 10.1177/0009922811429483. Clin Pediatr (Phila). 2012. PMID: 22500046 No abstract available.

10

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR. Grünert SC, et al. Among authors: ficicioglu c. Orphanet J Rare Dis. 2012 May 29;7:31. doi: 10.1186/1750-1172-7-31. Orphanet J Rare Dis. 2012. PMID: 22642865 Free PMC article.

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