Can Ficicioglu, MD,PhD

faculty photo
Professor of Pediatrics at the Children's Hospital of Philadelphia
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
Education:
MD
University of Istanbul, Cerrahpasa Medical School (with High Honors), 1985.
PhD (Histology & Embryology)
University of Marmara, 1996.
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Selected Publications

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.

Priestley JRC, Alharbi H, Callahan KP, Guzman H, Payan-Walters I, Smith L, Ficicioglu C, Ganetzky RD, Ahrens-Nicklas RC.: The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening. International Journal of Newborn Screening 6(2)(39), June 2020.

Barone A, Strong A, Ficicoglu C: Persistent dyslipidemia in treatment of lysosomal acid lipase deficiency. Orphanet Journal of Rare Diseases Feb 2020.

Cannata Serio M , Graham LA, Ashikov A, Timal S, Raymond K, Ryan M, Czarnowska E, Jansen C, He M, Ficicioglu C, Pichurin P, Hasadsri L, Gilissen R C, Rodenburg R, Morava E, Joris A, Veltman JA, Socha P, Stevens TH ,Simons M, Lefeber DJ : Mutations in the V-ATPase assembly factor VMA21 cause a congenital disorder of glycosylation with autophagic liver disease. Hepatology 2020 Notes: in press.

Rubio-Gozalbo ME, Derks B, Das A, Meyer U, Möslinger D, Couce M, Empain A, Ficicioglu C, Palacios N, et al. : Galactokinase deficiency: lessons from the GalNet registry Genetics in Medicine 2020 Notes: accepted for publication

Farmer, C.A., Kaat, A., Thurm, A., Anselm, I., Akshoomoff, N., Bennett, A., Berry, L., Bruchey, A., Barshop, B., Berry-Kravis, E., Bianconi, S., Cecil, K.M., Davis, R.J., Ficicioglu, C., Porter, F.D., Wainer, A., Goin-Kochel, R.P., Leonczyk, C., Guthrie, W., Koeberl, D., Love-Nichols, J., Mamak, E., Mercimek-Andrews, S., Thomas, R.P., Spiridigliozzi, G., Sullivan, N., Sutton, V.R., Udhnani, M.D., Waisbren, S.E., Miller, J.S. : Person ability scores as an alternative to norm-referenced scores as outcome measures in studies of neurodevelopmental disorders. American Journal on Intellectual and Developmental Disabilities 2020 Notes: in press

Degnan AJ, Ho-Fung VM, Wang D, Ficicioglu C, Jaramillo D: Gaucher disease status and treatment assessment: pilot study using magnetic resonance spectroscopy bone marrow fat fractions in pediatric patients. Clinical Imaging 2020 Notes: In press.

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Last updated: 02/14/2021
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