Can Ficicioglu, MD,PhD

faculty photo
Professor of Pediatrics (Human Genetics) 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
3500 Civic Center Blvd.
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

Menello C, Pressley S, Steffensen M, Schmidt S, Pedro H, Jethva R, Valdez-Gonzalez K, Adams DJ, Gupta P, King LT, Velinov M, Anderson S, Bizargity P, Pletcher B, Tuite A, Kresge C, Day-Salvatore DL, Kuehl R, Ficicioglu C.: Newborn Screening for Gaucher Disease: The New Jersey Experience. Int J Neonatal Screen. 11(2):34, 2025.

Ron HA, Kane O, Guo R, Menello C, Engelhardt N, Pressley S, DiBoscio B, Steffensen M, Cuddapah S, Ng K, Ficicioglu C, Ahrens-Nicklas RC.: Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen. Int J Neonatal Screen. 11(1):16, 2025.

Morris AAM, Sokolová J, Pavlíková M, Gleich F, Kölker S, Dionisi-Vici C, Baumgartner MR, Hannibal L, Blom HJ, Huemer M, Kožich V; E‐HOD Consortium.: Cystathionine β-Synthase Deficiency in the E-HOD Registry-Part II: Dietary and Pharmacological Treatment. J Inherit Metab Dis. 48(1):e12844., 2025.

Ficicioglu C, Thomas JA, Ganesh J, Kudrow D, Lah M, Smith WE, Güner J, McDermott S, Vaidya SA, Wilkening L, Levy HL.: Safety and efficacy of pegtibatinase enzyme replacement therapy in adults with classical homocystinuria in the COMPOSE phase 1/2 randomized trial. Genet Med. 27(8):101456, 2025.

Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N: Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study. Mol Genet Metab. 142(4), June 2024.

Feillet F, Ficicioglu C, Lagler FB, Longo N, Muntau AC, Burlina A, Trefz FK, van Spronsen FJ, Arnoux JB, Lindstrom K, Lilienstein J, Clague GE, Rowell R, Burton BK: Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries. J Inherit Metab Dis. 3, March 2024.

Pajusalu S, Vals MA, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E, Õunap K.: Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG. Hum Mutat. 8813121., 2024.

Posset R et al : Severity-adjusted evaluation of liver transplantation on health outcomes in Urea Cycle Disorders Genetics in Medicine 2023.

Katler Q, Stepien KM, Paull N, Patel S, Adams M, Balci MC, Berry GT, Bosch AM, De La O A, Demirbas D, Edman J, Ficicioglu C, Goff M, Hacker S, Knerr I, Lancaster K, Li H, Mendelsohn BA, Nichols B, de Rezende Pinto WBV, Rocha JC, Rubio-Gozalbo ME, Saad-Naguib M, Scholl-Buergi S, Searcy S, de Souza PVS, Wittenauer A, Fridovich-Keil JL: A Multinational Study of Acute and Long-term Outcomes of Type 1 Galactosemia Patients Who Carry the S135L (c.404C>T) Variant of GALT. J Inherit Metab Dis Sept 2022.

Brower A, Chan K, Williams M, Berry S, Currier R, Rinaldo P, Caggana M, Gaviglio A, Wilcox W, Steiner R, Holm IA, Taylor J, Orsini JJ, Brunelli L, Adelberg J, Bodamer O, Viall S, Scharfe C, Wasserstein M, Chen JY, Escolar M, Goldenberg A, Swoboda K, Ficicioglu C, Matern D, Lee R, Watson M.: Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One) Front Genet. 2 Jul 2022.

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Last updated: 07/11/2025
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