Selected Publications

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.

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.

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.

Scharre S, Posset R, Garbade SF, Gleich F, Seidl MJ, Druck AC, Okun JG, Gropman AL, Nagamani SCS, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group.: Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency. Ann Clin Transl Neurol. 9(11), 2022.

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.

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

Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE.: Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics 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.