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Can Ficicioglu

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TOP 3
Curtis R Coughlin; Keith Hyland; Rebecca Randall; Can Ficicioglu
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report.
Sook Z Kim; Roseann Mandell; William L Nyhan; Can Ficicioglu; Wung J Song; Vivian E Shih
Long-term follow-up of four patients affected by HHH syndrome.
Samantha A Schrier; Can Ficicioglu
Severe metabolic acidosis in a newborn with an abnormal newborn screen.

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All Publications

2013: Curtis R Coughlin; Keith Hyland; Rebecca Randall; Can Ficicioglu
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report.
JIMD reports 2013;10():53-6.
2012: Sook Z Kim; Roseann Mandell; William L Nyhan; Can Ficicioglu; Wung J Song; Vivian E Shih
Long-term follow-up of four patients affected by HHH syndrome.
Clinica chimica acta; international journal of clinical chemistry 2012;413(13-14):1151-5.
2012: Samantha A Schrier; Can Ficicioglu
Severe metabolic acidosis in a newborn with an abnormal newborn screen.
Clinical pediatrics 2012;51(5):518-20.
2012: Sarah C Grünert; Jürgen Herwig; Stefan Kölker; Raphael J Morscher; Dorothea Möslinger; Elisabetta Pasquini; René Santer; K Otfried Schwab; Martin Stucki; Terttu Suormala; Bridget Wilcken; Wyatt W Yue; Patricie Burda; Celine Bürer; Ernst Christensen; Can Ficicioglu; Brian Fowler; Matthias R Baumgartner
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Orphanet journal of rare diseases 2012;7():31.
2011: Can Ficicioglu; David Bearden
Isolated neonatal seizures: when to suspect inborn errors of metabolism.
Pediatric neurology 2011;45(5):283-91.
2011: Jennifer R Badik; Uriel Castañeda; Michael P Epstein; Can Ficicioglu; Kristi Fitzgerald; Tyler J Gleason; Jessica B Spencer; Judith L Fridovich-Keil
Ovarian function in Duarte galactosemia.
Fertility and sterility 2011;96(2):469-473.e1.
2011: Toshiyuki Fukao; Jörn Oliver Sass; Petri Kursula; Eva Thimm; Udo Wendel; Can Ficicioglu; Kamel Monastiri; Nathalie Guffon; Ivo Barić; Marie-Therese Zabot; Naomi Kondo
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
Biochimica et biophysica acta 2011;1812(5):619-24.
2010: Can Ficicioglu; Christie Hussa; Paul R Gallagher; Nina Thomas; Claire Yager
Monitoring of biochemical status in children with Duarte galactosemia: utility of galactose, galactitol, galactonate, and galactose 1-phosphate.
Clinical chemistry 2010;56(7):1177-82.
2010: Dennis E Freer; Can Ficicioglu; David Finegold
Newborn screening for galactosemia: a review of 5 years of data and audit of a revised reporting approach.
Clinical chemistry 2010;56(3):437-44.
2010: Can Ficicioglu; Curtis R Coughlin; Michael J Bennett; Marc Yudkoff
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry.
The Journal of pediatrics 2010;156(3):492-4.
2009: Can Ficicioglu; C Hussa
Very long-chain acyl-CoA dehydrogenase deficiency: the effects of accidental fat loading in a patient detected through newborn screening.
Journal of inherited metabolic disease 2009;32 Suppl 1():S187-90.
2009: Can Ficicioglu; Kristina An Haack
Failure to thrive: when to suspect inborn errors of metabolism.
Pediatrics 2009;124(3):972-9.
2009: Georgianne L Arnold; Johan Van Hove; Debra Freedenberg; Arnold Strauss; Nicola Longo; Barbara Burton; Cheryl Garganta; Can Ficicioglu; Stephen Cederbaum; Cary O Harding; Richard G Boles; Dietrich Matern; Pranesh Chakraborty; Annette Feigenbaum
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Molecular genetics and metabolism 2009;96(3):85-90.
2008: Can Ficicioglu; Nina Thomas; Claire Yager; Paul R Gallagher; Christie Hussa; Andrea Mattie; Debra L Day-Salvatore; Brian J Forbes
Duarte (DG) galactosemia: a pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening.
Molecular genetics and metabolism 2008;95(4):206-12.
2008: Reena Jethva; Can Ficicioglu
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening.
Molecular genetics and metabolism 2008;95(4):241-2.
2008: Matthew A Deardorff; Himabindu Gaddipati; Paige Kaplan; Pedro A Sanchez-Lara; Neal Sondheimer; Nancy B Spinner; Hakon Hakonarson; Can Ficicioglu; Jaya Ganesh; Thomas Markello; Brett Loechelt; Dina J Zand; Marc Yudkoff; Uta Lichter-Konecki
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.
Molecular genetics and metabolism 2008;94(4):498-502.
2008: Kimberly A Chapman; Jai Ganesh; Can Ficicioglu
A false-positive newborn screening result: goat's milk acidopathy.
Pediatrics 2008;122(1):210-1; author reply 211.
2008: Trevor L Hoffman; Arastoo Vossough; Can Ficicioglu; Jeannie Visootsak
Brain magnetic resonance imaging findings in 49,XXXXY syndrome.
Pediatric neurology 2008;38(6):450-3.
2008: Can Ficicioglu; Christie Hussa; Claire Yager; Stanton Segal
Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia.
European journal of pediatrics 2008;167(5):595-6.
2008: Can Ficicioglu
Review of miglustat for clinical management in Gaucher disease type 1.
Therapeutics and clinical risk management 2008;4(2):425-31.
2008: D P Dimmock; Q Zhang; Carlo Dionisi Vici; Rosalba Carrozzo; J Shieh; L-Y Tang; Cavatina Truong; E Schmitt; M Sifry-Platt; Simona Lucioli; Filippo M Santorelli; Can Ficicioglu; M Rodriguez; Klaas Jan Wierenga; Gregory M Enns; Nicola Longo; MH Lipson; Hilary D Vallance; William J Craigen; Fernando Scaglia; Lee-Jun C Wong
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Human mutation 2008;29(2):330-1.
2006: Can Ficicioglu; Irma Payan
3-Methylcrotonyl-CoA carboxylase deficiency: metabolic decompensation in a noncompliant child detected through newborn screening.
Pediatrics 2006;118(6):2555-6.
2006: Paige Kaplan; Can Ficicioglu; Alice T Mazur; Michael J Palmieri; Gerard T Berry
Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency.
Molecular genetics and metabolism 2006;88(4):322-6.
2006: Kimberly K Openo; Jenny M Schulz; Claudia A Vargas; Corey S Orton; Michael P Epstein; Rhonda E Schnur; Fernando Scaglia; Gerard T Berry; Gary S Gottesman; Can Ficicioglu; Alfred E Slonim; Richard J Schroer; Chunli Yu; Vanessa E Rangel; Jennifer Keenan; Kerri Lamance; Judith L Fridovich-Keil
Epimerase-deficiency galactosemia is not a binary condition.
American journal of human genetics 2006;78(1):89-102.
2005: C D Campbell; Jaya Ganesh; Can Ficicioglu
Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency.
Haematologica 2005;90(12 Suppl):ECR45.
2005: Can Ficicioglu; Maryanne R K Chrisant; I Payan; D H Chace
Cardiomyopathy and hypotonia in a 5-month-old infant with malonyl-coa decarboxylase deficiency: potential for preclinical diagnosis with expanded newborn screening.
Pediatric cardiology 2005;26(6):881-3.
2005: Trevor L Hoffman; Erin M Simon; Can Ficicioglu
Biotinidase deficiency: the importance of adequate follow-up for an inconclusive newborn screening result.
European journal of pediatrics 2005;164(5):298-301.
2005: Can Ficicioglu; Claire Yager; Stanton Segal
Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype.
Molecular genetics and metabolism 2005;84(2):152-9.