Can Ficicioglu, MD,PhD

faculty photo
Professor of Pediatrics at the Children's Hospital of Philadelphia
Director, The Children's Hospital of Philadelphia, Division of Human Genetics, Newborn Metabolic Screening Program
Consultant Physician, Pennsylvania Hospital-Neonatology
Consultant Physician, Hospital of University of Pennsylvania- Neonatology
Director, The Children's Hospital of Philadelphia, Division of Human Genetics, Lysosomal Storage Diseases Program
Director, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, Division of Human Genetics
Department: Pediatrics

Contact information
Division of Human Genetics
The Children's Hospital of Philadelphia
3501 Civic Center Blvd #9054.
Philadelphia, PA 19104
Office: 215 590 3376
Fax: 215 590 4297
University of Istanbul, Cerrahpasa Medical School (with High Honors), 1985.
PhD (Histology & Embryology)
University of Marmara, 1996.
Permanent link
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Selected Publications

Ficicioglu C, Liu N, Sun Q, Burdett A, Hata A, Porter M, Sutton VR.: Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database. Mol Genet Metab. Page: 35-41, January 2022.

Gold J, Gold NB, Strong A, Tully E, Xiao R ,Schwartz LA, Ficicioglu C: The Current State of Adult Metabolic Medicine in the United States: Results of a Nationwide Survey. Genetics in Medicine 2022 Notes: accepted for publication

Priestley J, Adang L, Williams SD, Lichter-Konecki U, Menello C, Engelhardt N, DiPerna J, Brenda DiBoscio B, Rebecca C. Ahrens-Nicklas RC, Edmondson AC , Reynoso J and Ficicioglu C: Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania. International Journal of Neonatal Screening 2022.

Čechová A, Honzík T, Edmondson AC, Ficicioglu C, Serrano M, Barone R, De Lonlay P, Schiff M, Witters P, Lam C, Patterson M, Janssen MCH, Correia J, Quelhas D, Sykut-Cegielska J, Plotkin H, Morava E, Sarafoglou K. : Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency? Mol Genet Metab 133(4): 397-399, August 2021.

Gold JI, Campbell IM, Ficicioglu C. : Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening. Int J Neonatal Screen. 7(3): 38, July 2021.

Ficicioglu C, Demirbas D, Derks B, Pai GS, Timson DJ, Rubio-Gozalbo ME, Berry GT.: [13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis. JIMD Rep. 59(1): 104-109, Feb 2021.

Li, C, Desai, A, Gupta P, Dempsey K, Bhambhani V, Hopkin R, Ficicioglu C et al : Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction. Genet Med. 2021.

Kozich V, and E-HOD consortium : Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis. J Inherited Metab Dis December 2020.

Ficicioglu C, Ahrens-Nicklas R, Barch J, Cuddapah S, DiBoscio B, DiPerna J, Gordon P, Henderson N, Menello C, Luongo N, Ortiz D, Xiao R: Newborn Screening for Pompe Disease: Pennsylvania Experience International Journal of Newborn Screening 6(4 (89)), November 2020.

Ficicioglu C, Matalon DR, Luongo N, Menello C, Kornafel T, Degnan AJ. : Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study. Orphanet J Rare Dis. 15(1)(336): 1-10, November 2020.

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Last updated: 04/18/2022
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