Selected Publications

Aljaberi R, Romo L, Cohen RZ, Mellor T, Steffensen M, Ficicioglu C, Hainline B, Gambello MJ, Levy HL, Li H.: Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review. Am J Med Genet A. January 2026.

Hiwot T, Porter FD, Bremova-Ertl T, Ramaswami U, Hastings C, Héron B, Hopkin J, Melville J, Amartino H, Del Toro M, Deodato F, Ezgü F, Gissen P, Gibson JB, Ficicioglu C, Giugliani R, Staretz-Chacham O, Platt F, Guffon N, Julich K, Kresojević N, Lehman A, Nadjar Y, Schneider SA, Jones S, Mengel E, Tchan M, Walterfang M, Goker-Alpan O, Dawson C, Cowie S, Mathieson T, Berry-Kravis E, Patterson MC.: 2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. J Inherit Metab Dis 49(3), 2026.

Schwahn BC, Berry GT, Vernon HJ, Li H, Merritt Ii JL, Schiff M, Chabrol B, De Las Heras J, Vockley J, Lee C, Koeberl DD, Burton BK, Grunewald S, Diaz GA, Ficicioglu C, Morgan T, Luo J, Attarwala H, Liang M, Perera S, Sikirica V.: Characterizing the frequency of clinical events and assessing biomarkers in propionic acidemia: a natural history study. Orphanet J Rare Dis. 21(1), 2026.

Zimran A, Botha J, Eastell R, Ficicioglu C, Finkelman RD, Frydman D, Giraldo P, Goker-Alpan O, Kishnani PS, Lau H, Ruhrman-Shahar N, Hughes DA.: Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies. J Clin Med. 15(7), 2026.

Miller JS, Farmer C, Blair S, Bianconi S, Akshoomoff N, Anselm I, Barshop BA, Becker L, Bennett AE, Berry LN, Berry-Kravis EM, Bruchey A, Byars AW, Cimms T, Cecil KM, Covello M, Cubit LS, Das T, Davis RJ, Drye M, Ficicioglu C, Fulton JB, Goin-Kochel RP, Guthrie W, Hallinan BE, Hannah-Shmouni F, Gustafson KE, Koeberl DD, Longo N, Mamak E, Mercimek-Andrews S, Michalak C, Porter FD, Rahhal S, Rees L, Spiridigliozzi GA, Stone C, Sullivan NR, Sutton VR, Thomas RP, Udhnani M, Waisbren S, Xu M, Zhang L, Brandabur M, Thurm A.: Longitudinal Characterization of Males With X-Linked Creatine Transporter Deficiency: Final Results of a Multiyear Observational Study. Pediatr Neurol. 175:8-18, 2026.

Revel-Vilk S, Deegan P, Day-Salvatore D, Goker-Alpan O, Mengel E, Batista JL, Carwile JL, Perichon G, Ficicioglu C.: Maternal and Fetal Outcomes in Imiglucerase-Treated Patients With Gaucher Disease: Real-World Evidence From the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry. J Inherit Metab Dis. 49(2), 2026.

Merkevicius K, Smirnov D, Schlieben LD, Ganetzky R, Feichtinger RG, Jiang H, Fang F, Ebihara T, Murayama K, Ferrera G, Ardissone A, Rokicki D, Wesol-Kucharska D, Schröder S, Bauer P, Bertoli-Avella A, Østergaard E, Freisinger P, Janssen MCH, Wagner M, Abouyousef O, Alhaddad B, AlAbdi L, Alkuraya F, Alston CL, Baghdasaryan A, Barca D, Barić I, Bellusci M, Bevot A, Boltshauser E, Borggraefe I, Bouchereau J, Bruno C, Burnyte B, Calhoun A, Casas K, Coker M, Crushell E, De Lonlay P, Dionisi-Vici C, Distelmaier F, Falk MJ, Ferreira AC, Ferreira CR, Ficicioglu C, Fatma Gokçay G, Häberle J, Heath O, Hellenschmidt A, Hoefele J, Hoffmann GF, Honzik T, Huemer M, Janeiro P, Karaa A, Seher Kasapkara Ç, Kern I, Klepper J, Klopstock T, Knerr I, Koch J, Krumina Z, Lamperti C, Lebigot E, Liu Z, Maier EM, Martinelli D, McFarland R, Mendelsohn B, Molnar MJ, Mundy H, Nassogne MC, Oliveira A, Õunap K, Panicucci C, Parikh S, Peters H, Pichard S, Plecko B, Ramadža DP, Repetto GM, Rivera I, Rodenburg RJ, Rossi A, Schiff M, Seidemann K, Smith WE, Soares S, Siri B, Steinbrucker K, Striano P, Sykut-Cegielska J, Tal G, Taylor RW, Tsiakas K, Kalkan Ucar S, van Konijnenburg EH, Woidy M, Yaplito-Lee J, Yildiz Y.: The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency. Brain Nov 2025.

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.

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.