All Stories

  1. Disorders of phenylalanine and tyrosine metabolism

    Article • Translational Science of Rare Diseases, July 2020, IOS Press

    Professor Can Ficicioglu

  2. Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS)

    Article • American Journal of Medical Genetics Part A, December 2017, Wiley

    Professor Can Ficicioglu

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

    Article • Molecular Genetics and Metabolism, March 2016, Elsevier

    Professor Can Ficicioglu

  4. Screening for medium-chain acyl CoA dehydrogenase deficiency: current perspectives

    Article • Research and Reports in Neonatology, January 2016, Dove Medical Press

    Professor Can Ficicioglu

  5. Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss

    Article • Investigative Ophthalmology & Visual Science, December 2015, Association for Research in Vision and Ophthalmology (ARVO)

    Professor Can Ficicioglu

  6. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, September 2015, New England Journal of Medicine (NEJM/MMS)

    Professor Can Ficicioglu

  7. Identification of new FBXL4 patients with mitochondrial disorders

    Article • Mitochondrion, September 2015, Elsevier

    Professor Can Ficicioglu

  8. Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

    Article • Orphanet Journal of Rare Diseases, August 2015, Springer Science + Business Media

    Professor Can Ficicioglu

  9. An 8-Year-Old Girl With Abdominal Pain and Mental Status Changes

    Article • Pediatric Emergency Care, June 2015, Wolters Kluwer Health

    Professor Can Ficicioglu

  10. Adolescent Presentations of Inborn Errors of Metabolism

    Article • Journal of Adolescent Health, May 2015, Elsevier

    Professor Can Ficicioglu

  11. Long-term safety and efficacy of sapropterin: The PKUDOS registry experience

    Article • Molecular Genetics and Metabolism, April 2015, Elsevier

    Professor Can Ficicioglu

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

    Article • January 2015, Springer Science + Business Media

    Professor Can Ficicioglu

  13. Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency and Two MTHFR Variants in an Adolescent With Progressive Myoclonic Epilepsy

    Article • Pediatric Neurology, August 2014, Elsevier

    Professor Can Ficicioglu

  14. Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications

    Article • Ophthalmic Genetics, February 2014, Taylor & Francis

    Professor Can Ficicioglu

  15. Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

    Article • The New England Journal of Medicine and Surgery and the Collateral Branches of Science, February 2014, New England Journal of Medicine (NEJM/MMS)

    Professor Can Ficicioglu

  16. Liver Pathology in Infantile Mitochondrial DNA Depletion Syndrome

    Article • Pediatric and Developmental Pathology, December 2013, Society for Pediatric Pathology (SPP)

    Professor Can Ficicioglu

  17. Current specific enzyme therapies

    Article • August 2013, Future Medicine

    Professor Can Ficicioglu

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

    Article • Journal of Clinical Neurology, January 2013, Korean Neurological Association (KAMJE)

    Professor Can Ficicioglu

  19. Urea Cycle: Disease Aspects

    Article • January 2013, Elsevier

    Professor Can Ficicioglu

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

    Article • January 2013, Springer Science + Business Media

    Professor Can Ficicioglu

  21. Response

    Article • Pediatric Neurology, September 2012, Elsevier

    Professor Can Ficicioglu

  22. Long-term follow-up of four patients affected by HHH syndrome

    Article • Clinica Chimica Acta, July 2012, Elsevier

    Professor Can Ficicioglu

  23. Severe Metabolic Acidosis in a Newborn With an Abnormal Newborn Screen

    Article • Clinical Pediatrics, April 2012, SAGE Publications

    Professor Can Ficicioglu

  24. Dihydropteridine Reductase Deficiency and Treatment with Tetrahydrobiopterin: A Case Report

    Article • January 2012, Springer Science + Business Media

    Professor Can Ficicioglu

  25. 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals

    Article • Orphanet Journal of Rare Diseases, January 2012, Springer Science + Business Media

    Professor Can Ficicioglu

  26. Isolated Neonatal Seizures: When to Suspect Inborn Errors of Metabolism

    Article • Pediatric Neurology, November 2011, Elsevier

    Professor Can Ficicioglu

  27. Ovarian function in Duarte galactosemia

    Article • Fertility and Sterility, August 2011, Elsevier

    Professor Can Ficicioglu

  28. Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

    Article • Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, May 2011, Elsevier

    Dr Petri Kursula, Professor Can Ficicioglu

  29. Reply

    Article • The Journal of Pediatrics, January 2011, Elsevier

    Professor Can Ficicioglu

  30. Monitoring of Biochemical Status in Children with Duarte Galactosemia: Utility of Galactose, Galactitol, Galactonate, and Galactose 1-Phosphate

    Article • Clinical Chemistry, May 2010, AACC

    Professor Can Ficicioglu

  31. Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry

    Article • The Journal of Pediatrics, March 2010, Elsevier

    Professor Can Ficicioglu

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

    Article • Journal of Inherited Metabolic Disease, January 2010, Springer Science + Business Media

    Professor Can Ficicioglu

  33. Newborn Screening for Galactosemia: A Review of 5 Years of Data and Audit of a Revised Reporting Approach

    Article • Clinical Chemistry, January 2010, AACC

    Professor Can Ficicioglu

  34. Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening

    Article • Molecular Genetics and Metabolism, November 2009, Elsevier

    Professor Can Ficicioglu

  35. Failure to Thrive: When to Suspect Inborn Errors of Metabolism

    Article • PEDIATRICS, August 2009, American Academy of Pediatrics (AAP)

    Professor Can Ficicioglu

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

    Article • Journal of Inherited Metabolic Disease, April 2009, Springer Science + Business Media

    Professor Can Ficicioglu

  37. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

    Article • Molecular Genetics and Metabolism, March 2009, Elsevier

    Professor Can Ficicioglu

  38. 090: Duarte galactosemia: A partial galactose uridyl transferase deficiency with low prevalence of cataracts

    Article • Journal of American Association for Pediatric Ophthalmology and Strabismus, February 2009, Elsevier

    Professor Can Ficicioglu

  39. Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening

    Article • Molecular Genetics and Metabolism, December 2008, Elsevier

    Professor Can Ficicioglu

  40. Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening

    Article • Molecular Genetics and Metabolism, December 2008, Elsevier

    Professor Can Ficicioglu

  41. 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

    Article • Molecular Genetics and Metabolism, August 2008, Elsevier

    Professor Can Ficicioglu

  42. A False-positive Newborn Screening Result: Goat's Milk Acidopathy

    Article • PEDIATRICS, July 2008, American Academy of Pediatrics (AAP)

    Professor Can Ficicioglu

  43. Brain Magnetic Resonance Imaging Findings in 49,XXXXY Syndrome

    Article • Pediatric Neurology, June 2008, Elsevier

    Professor Can Ficicioglu

  44. FDG-PET findings in patients with galactosaemia

    Article • Journal of Inherited Metabolic Disease, May 2008, Springer Science + Business Media

    Professor Can Ficicioglu

  45. Structural Variation of Chromosomes in Autism Spectrum Disorder

    Article • The American Journal of Human Genetics, February 2008, Elsevier

    Professor Can Ficicioglu

  46. Effect of galactose free formula on galactose-1-phosphate in two infants with classical galactosemia

    Article • European Journal of Pediatrics, June 2007, Springer Science + Business Media

    Professor Can Ficicioglu

  47. Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency

    Article • Genetics in Medicine, February 2007, Nature

    Professor Can Ficicioglu

  48. 3-Methylcrotonyl-CoA Carboxylase Deficiency: Metabolic Decompensation in a Noncompliant Child Detected Through Newborn Screening

    Article • PEDIATRICS, December 2006, American Academy of Pediatrics (AAP)

    Professor Can Ficicioglu

  49. Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

    Article • Molecular Genetics and Metabolism, August 2006, Elsevier

    Professor Can Ficicioglu

  50. Epimerase-Deficiency Galactosemia Is Not a Binary Condition

    Article • The American Journal of Human Genetics, January 2006, Elsevier

    Professor Can Ficicioglu

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

    Article • European Journal of Pediatrics, February 2005, Springer Science + Business Media

    Professor Can Ficicioglu

  52. Galactitol and galactonate in red blood cells of children with the Duarte/galactosemia genotype

    Article • Molecular Genetics and Metabolism, February 2005, Elsevier

    Professor Can Ficicioglu

  53. MRI Findings in Succinic Semialdehyde Dehydrogenase Deficiency

    Article • Neuropediatrics, February 2000, Thieme Publishing Group

    Professor Can Ficicioglu

  54. MRI and MRS in HMG-CoA lyase deficiency

    Article • Pediatric Neurology, May 1999, Elsevier

    Professor Can Ficicioglu

  55. NEPHROTIC SYNDROME ASSOCIATED WITH HEPATITIS A VIRUS INFECTION

    Article • The Pediatric Infectious Disease Journal, April 1999, Wolters Kluwer Health

    Professor Can Ficicioglu

  56. Reduced immune response to hepatitis B vaccine in children with insulin dependent diabetes

    Article • Pediatrics International, December 1995, Wiley

    Professor Can Ficicioglu