Can Ficicioglu, MD, PhD

2025

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. 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.

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.

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.

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.

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), Aug 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.

2023

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

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.

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.

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.

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  24(8): 1722-1731, 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 ofNeonatal Screening 23;8(2): 24, 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.

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.

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.

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.

ÄŒechová 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.

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.

2020

Barone A, Strong A, Ficicoglu C: Persistent dyslipidemia in treatment oflysosomal acid lipase deficiency. Orphanet Journal of Rare Diseases 15(1): 58, Feb 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.

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.

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 72(6): 1968-1986, 2020.

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 63: 1-6, 2020.

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   125(6): 475-480, 2020.

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.

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 23(1): 202-210, 2020.

2019

Ahrens-Nicklas R, Ganetzky RD, Rush PW, Conway RL, Ficicioglu C : Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening. J Inherit Metab Dis. 42(1), Jan 2019.

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.: Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry. J Inherit Metab Dis.  42(2): 333-352, Mar 2019.

Van Hove JLK, Freehauf CL, Ficicioglu C, Pena LDM, Moreau KL, Henthorn TK, Christians U, Jiang H, Cowan TM, Young SP, Hite M, Friederich MW, Stabler SP, Spector EB, Kronquist KE, Thomas JA, Emmett P, Harrington MJ, Pyle L, Creadon-Swindell G, Wempe MF, MacLean KN.: Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. J Inherit Metab Dis.    42(3), May 2019.

Chen J,Li X, Edmondson A, Meyers G,Izumi K, Ackermann A, Morava E, Ficicioglu C,Bennett M, He .: Increased Clinical Sensitivity and Specificity of Plasma Protein N-Glycan Profiling for Diagnosing Congenital Disorders of Glycosylation using Flow Injection Electrospray Ionization Quadrupole Time-of-Flight Mass Spectrometry. Clinical Chemistry  65(5): 653-663, 2019.

Degnan AJ , Ho-Fung VM, Ahrens-Nicklas R, Barrera CA, Serai SD, Wang D, Ficicioglu C: Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement Insights Imaging 10(70), 2019.

Shelkowitz E, Ficicioglu C, Stence N, Van Hove J, Larson A.: Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency. J Child Neurol. 35(2): 137-145, 2019.

2018

Ficicioglu C, Giugliani R, Harmatz P, Mendelsohn N, Jego V, Parini R   : Intrafamilial variability in the clinical manifestations of mucopolysaccharidosis type II: data from the Hunter Outcome Survey (HOS) American Journal of Medical Genetics Part A. 176(2): 301-310, February 2018.

Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Tresarrieu PF, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, David Tregouët3, Raby B, Chung WK, Morange PE, D. Sean Froese DS, Baumgartner M, Benoist JF, Ficicioglu C, Marchand V, Yuri Motorine Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS : APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients  Nat Commun.  9(1): 67, February  2018.

Bruun T, Sidky S, Bandeira OA, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, MD7, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S: Treatment outcome of creatine transporter deficiency: international retrospective cohort study  Metabolic Brain Disease 33(3): 875-884, June 2018.

Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M.: Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Transl Sci Rare Dis.  20:3(3-4): 157-170, 2018.

Berry SA, Vockley J, Vinks AA, Dong M, Diaz GA, McCandless SE, Smith WE, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Perdok R, Robinson B, Holt RJ, Longo N.: Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders. Mol Genet Metab.  125(3):251-257, 2018.

Dines JN, Golden-Grant KG, LaCroix A, Muir A, McWalter K, Cho M, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A,  Ficicioglu C , Karger L, Helbig I, Pendziwiat M, Muhle H, Sun A, Mefford HC : TANGO2: Expanding the clinical phenotype and spectrum of pathogenic variants Genetics in Medicine  21(3): 601-607, 2018 

Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium, Alcalde Martin C, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J.: Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry. J Inherit Metab Dis. 42(2): 333-352, 2018.

Miller JS, Thomas RP, Bennett A, Bianconi S, Bruchey A, Davis RJ, Ficicioglu C, Guthrie W, Porter FD, Thurm A.: Early Indicators of Creatine Transporter Deficiency. J Pediatr. 3(3-4): 157-170, 2018.

2017

Whitaker, Ashley M.,  Thomas, Nina Hattiangadi,  Krivitzky, Lauren S.,  Ficicioglu, Can H.: Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening. Applied Neuropsychology: Child. Routledge, 10(1): 143-149, Jan 2017.

Ahrens-Nicklas RC, Whitaker AM, Kaplan P, Cuddapah S, Burfield J, Blair B, Brochi L, Yudkoff M, Ficicioglu C.: Efficacy of early treatment in patients with Cobalamin C disease identified by newborn screening, a sixteen-year experience. Genetics in Medicine 19(8): 926-935, August 2017.

Berry S, Nicola Longo N, Diaz GA, McCandless SE, Smith W, Harding CO, Zori R, Ficicioglu C, Lichter-Konecki U, Robinson B, Vockley J: Safety and Efficacy of Glycerol Phenylbutyrate for Management of Urea Cycle Disorders in Patients Aged 2 Months to 2 Years. Molecular Genetics and Metabolism 122(3): 46-53, November 2017.

2016

Weber DR, Coughlin II C, Brodsky JL, Lindstrom K, Ficicioglu C, Kaplan P, Freehauf CL, Levine MA: Low Bone Mineral Density is a Common Finding in Patients with Homocystinuria Molecular Genetics and Metabolism 117(3): 351-4, March 2016.

Dai H, Zhang VW, El-Hattab AW, Ficicioglu C, Shinawi M, Lines M, Schulze A, McNutt M, Gotway G, Tian X, Chen S, Wang J, Craigen WJ, Wong LJ.: cprFBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. Clin Genet. 91(4): 634-39, April 2016.

Bobby G. Ng, Shiryaev S, Rymen D, Eklund E, Raymond K, Kircher M, Abdenur J, Alehan F, Midrob A, Bamshad M, Barone R, Berry G, Brumbaugh, Buckingham K, Clarkson K, Cole S, O'Connor S, Cooper GM, Van Coster R, Demmer L, Diogo L, Fay A, Ficicioglu C, Fiumara , Gahl WA, Ganetzky G, Goel H, Harshman L, He M, Jaeken J, Lachlan K , Lam C , Yaplito-Lee J, Nickerson D , Peters H, Race V, Régal L, Rush J, Rutledge S, Shendure S, Sparks S, Trapane P, Sanchez-Valle A, Vilain E, Waechter C, Wang R, Wolfe L, Wong DA, Wood T, Yang AC , Matthijs G , Freeze HH: ALG1-CDG: Clinical and molecular characterization of 39 unreported patients. Human Mutations 37(7): 653-60, Jul 2016.

Ahrens-Nicklas RC, Pyle LC, Ficicioglu C: Morbidity and Mortality Among Exclusively Breastfed Neonates WithMedium Chain Acyl-CoA Dehydrogenase Deficiency Genetics in Medicine  18(12): 1315-19, December 2016 Notes: The winner of the 2017 Richard King Award for the best article published by a trainee in GIM in 2016. 

2015

Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL.: Long-Term Safety and Efficacy of Sapropterin: the PKUDOS registry experience. Molecular Genetics and Metabolism 114(4): 557-63, April 2015.

Chien Y, Bannick A, Corrales F,Couce M, Donner M, Ficicioglu C et al : Mudd's disease (MATI/III deficency). A survey data for MAT1A homozygotes and compound heterzygotes. Orphanet Journal of Rare Disease 10(99): doi: 10.1186, August 2015.

Burton B, Balwani M , Francois F, Baric I, Burrow A, Grande C, Coker M, Sánchez A,  Deegan P, Di Rocco M, Enns G, Erbe R, Ezgu F, Ficicioglu C, Furuya K, Kane J, Laukaitis C, Mengel E, Neilan E, Nightingale S, Peters H, Scarpa M, Schwab K, Smolka V, Valayannopoulos V, Wood M, Goodman Z,   Yang Y, Eckert S, Rojas-Caro S, Quinn A.: A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med. 373(11): 1010-20, September 2015.

Bonafede L, Ficicioglu CH, Serrano L, Han G, Morgan JIW , Mills M, Forbes, BJ, Davidson, S, Binenbaum G , Nichols CH, Kaplan P, Verloo P,    Leroy BP,  Maguire AM ,  Aleman TS: Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy with Severe Photoreceptor and Ganglion Cell Los. Investigative Ophthalmology & Visual Science (IOVS)(56), 7875-7887, 2015 Notes: While I am the second author, I made a substantial contribution to conception, design, analysis and interpretation of data, was involved with developing the draft of the article and revising it critically for important intellectual content.

2014

Tegtmeyer L, Rust S, van Scherpenzeel M, Bobby G. Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Pascal Laforêt P, Petit P, Aumaître O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P,  Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T.: Multiple Phenotypes in Phosphoglucomutase 1 Deficiency. N Engl J Med (370), 533-542, 2014.

2012

Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR.: 3-Methylcrotonyl-CoA Carboxylase Deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet J Rare Dis. 7(1): 31, May 2012.

2011

Badik JR, Castañeda U, Gleason TJ, Spencer JB, Epstein MP, Ficicioglu C, Fitzgerald K, Fridovich-Keil JL.: Ovarian function in Duarte galactosemia. Fertil Steril.  96(2): 469-473, August 2011.

2010

Ficicioglu C, Hussa C, Gallagher PR, Thomas NH, Yager C.: Monitoring of Biochemical Status in Children with Duarte Galactosemia:Utility of Galactose, Galactitol, Galactonate and Galactose-1-Phosphate. Clinical Chemistry  56(7): 1177-82, July 2010.

2009

Ficicioglu C, Mandell R, Shih V. : Argininosuccinate Lyase Deficiency: Long-term Outcome of 13 Patients Detected By Newborn Screening.  Mol Genet Metab.  98(3): 273-7, 2009.

2008

DimmockD P, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Truong C, E. Schmit E, Sifry-Platt M, , Lucioli S, Santorelli F M, Ficicioglu C H , Rodriguez M, Wierenga K, G. M. Enns,  Longo N, Lipson M H, Vallance H, Craigen W J, Scaglia F & Wong1 L-J.   : Clinical and Molecular Features of Mitochondrial DNA Depletion due to Mutations in Deoxyguanosine Kinase.   Hum Mutat. 29(2): 330-1, February 2008.

Marshall CR, Noor A, Vincent JB, Lionel AC  ,  Feuk   L, Skaug J, Shago M, Moessner R, Pinto D, Ren Y, Thiruvahindrapduram B, Fiebig A, Schreiber S,  Friedman J, Ketelaars CEJ , Vos YJ, Ficicioglu C, Kirkpatrick S,  Nicholson R, Sloman L, Summers A, Gibbons CA , Teebi A, Chitayat1 D,  Weksberg R, Thompson A, Vardy C, Crosbie V, Luscombe S, Baatjes R, Zwaigenbaum L, Roberts W, Fernandez B , Szatmari P ,Scherer SW. : Structural Variation of Chromosomes in Autism Spectrum Disorder.   Am J Hum Genet.  82(2): 477-88, February 2008.

Dubroff JG, Ficicioglu C, Segal S, Wintering NA, Alavi A, Newberg A B.: FDG PET Findings in Patients with Galactosemia.  Journal of Inherited Metabolic Disease. 31(4): 533-539, 2008.

Ficicioglu C, Thomas N , Yager C , Gallagher PR , Hussa C, Mattie A, Day-Salvatore DL, Forbes BJ. : Duarte (DG) Galactosemia: A Pilot Study of Biochemical and Neurodevelopmental Assessment in Children   Detected by Newborn Screening. Mol Genet Metab. 95(4): 1206-12, 2008.

2007

Oglesbee D, He M, Majumder N, Vockley J, Ahamad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu C, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D.: Development of a newborn screening follow up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency. Genet Med  9(2): 108-16, February 2007.

2006

Openo, KK, Schulz JM,Vargas CA,Orton CS, Epstein MP, Schnur RE, Scaglia F, Berry GT, Gottesman GS, Ficicioglu C, Slonim AE, Schroer RJ,Yu C, Rangel V, Keenan J, Lamance K, and  Fridovich-Keil JL. : Epimerase-deficiency galactosemia is not a binary condition.  Am J Hum Gen. 78(1): 89-102, January 2006.

2004

Ficicioglu C, Yager C, Segal S.: Galactitol and galactonate in red blood cells of children with the Duarte/Galactosemia (D/G) genotype. Mol Genet Metab 84(2): 152-159, 2004.

1997

Caliskan S, Ficicioglu C, Hacibekiroglu M, Mikla S, Kasapcopur O, Sever L, Aydin A, Arisoy N: Tubular Markers in Children with Insulin Dependent Diabetes Mellitus. Turk J Ped 39: 208-214, 1997.

Nasiroglu O, Aydin T, Ficicioglu C, Cam H, Mikla S, Kavunoglu G: The Comparison of Primary Unsulphated Bile Acid Values in Spot Urine Samples Between Children and Adults. Turk J Gastroenterol 8: 160-162, 1997.

1996

Ficicioglu C, Kiziltan M, Aydin A, Baslo P: Relation Between Limited Joint Mobility and Peripheral Nerve Function in Diabetic Children. Turk J Ped 38: 431-439, 1996.

Satman I, Ficicioglu C, Karsidag K, Koca F, Dinccag F, Odabasi F, Yilmaz MT, Aydin A, Hatkan M, Bueyuekdevrim S: Effect of Methyl-prednisolone Pulse Therapy on Insulin Induced Remission of Type 1 Diabetes. Turk J Ped 38: 419-431, 1996.

1995

Ficicioglu C, Mikla S, Midilli K, Ergin S, Aydin A: Reduced Immune Response to Hepatitis B Vaccine in Children with Insulin Dependent Diabetes. Acta Paediatrica Japonica 37(6): 216-220, 1995.

Ficicioglu C, Ulukutlu L, Guengen G : Immunologic classification of childhood lymphoblastic leukemia.  Turk J Med Biol Res (it is partly supported by the university of Istanbul, research center, Study no: 380/230289) 1: 36-41, 1995 

Kirkincioglu M, Ficicioglu C, Cam H, Aydin A, Bagriacik N: The Values of Skin Fold Thickness and Arm Circumference in Turkish Children between 0 and 6 years of age. Istanbul Cocuk Klinigi Dergisi 1: 21-26, 1995.

Koca F, Ficicioglu C, Cam H, Mikal S, Aydin A: The Factors Affecting the Erythrocyte Sedimentation Rate in Obese Children. Istanbul Cocuk Klinigi Dergisi 2: 73-79, 1995.

Mikla S, Ficicioglu C, Midilli K, Cam H Ozdemir S, Aydin A, Ergin S: The Seroepidemiology of Hepatitis B Infection Among Children in Orphanage. Turk J Gastroenterol 6: 414-415, 1995.

Terzibasioglu B, Cam H, Ficicioglu C, Mikal S, Aydin A: The Effects of Diabetes Duration and Control on Lipoprotein Levels of Children with Type 1 Diabetes. Endocrinolojide yonelisler 4: 20-23, 1995.

1994

Aydin T, Baban N, Aydin A, Cengiz S, Cam H, Ficicioglu C: Analysis of Bile Acids in Spot Urine Samples by Enzymatic Fluoroscopic Method. Istanbul Cocuk Klinigi Dergisi 29: 61-65, 1994.

Ficicioglu C, Aydin A, Kiziltan M: Neuropathy in Children with Insulin Dependent Diabetes Mellitus. Turk J Ped 36: 97-104, 1994.

1993

Cam H, Alikasifoglu M, Ficicioglu C, Aydin A: Plasma and Urine Zinc, Magnesium and Copper Levels in Children with Insulin Dependent Diabetes Mellitus. Istanbul Cocuk Klinigi Dergisi 4: 237-241, 1993.

1991

Zahiri Y, Haktan M, Aydin A, Erk M, Ficicioglu C. : Pulmonary function tests in obese children.  Turk J Med Biol Res 2(4): 305-310, 1991.

2024

Burton B, Ficicioglu C, Pedro H, Pathak R, Robinson I, Wright E Muenzer J : "Clinical characteristics and management of patients with mucopolysaccharidosis II (MPS II) in the United States from the Hunter Outcome Survey" Genetics Medicine  2(supplement 1 ), March 2024.

Ficicioglu C, Ganesh J, Smith W, Lah N, Kudrow D, Guner J, McDermott S, Viadya S, Wilkening L, Tomas J, Levy H,: "Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria: Latest findings from the COMPOSE phase 1/2 trial" Genetics Medicine 2(Supplement 1 ), March  2024.

Ficicioglu C, Muschol N, Burton BK, Magner M. Gil-Campos M,Lopez-Rodriguez MA Jayakar P, AM, Tal G, Garcia-Ortiz JE, Stepien K, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VS, Guffon N : "A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis" Genetics Medicine  2(supplement 1), March 2024.

Pramparo T, Chapman K, Chen Y, Ficicioglu C, Levy H, Tomas J, Vaidya S, Rodems S, Crushell E: "Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)" Genetics Medicine 2(Supplement 1), March 2024.

François Feillet; Ellen Crushell; Janet Thomas; Tawfeg Ben-Omran; Harvey Levy; Clint Lovell; Cheryl Wong Po Foo; Can Ficicioglu: COMPOSE® Phase 1/2, Dose-Escalation Cohort 7 Design: Safety of Pegtibatinase in Children Aged ≥5 to <12 Years With Classical Homocystinuria (HCU)  SSIEM 2024, Porto, Portugal  Sept 2024.

2023

Ficicioglu C, Ganesh J, Smith WE, Lah M,Kudrow D, Güner J, McDermott S, Vaidya SA, Wilkening L, Thomas J, Levy H: Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria (HCU): latest findings from the COMPOSE Phase 1/2 trial. JIMD 2023.

Ficicioglu C, Giuglian R, Harmatz P, Rajan D: RGX-121 Gene Therapy for the Treatment of Severe Mucopolysaccharidosis Type II (MPS II): CAMPSIITE™ Phase I/II/III: A Clinical Study Update. MGM 2023.

Revel-Vilk S, Batista JL, Jenny L. Carwile JL, Perichon G, Ficicioglu C: Pregnancy outcomes in imiglucerase-treated patients with Gaucher disease: real-world data from the International Collaborative Gaucher Group (ICGG) Gaucher Registry Pregnancy Sub-Registry. JIMD 2023.

2025

Ficicioglu C. "Sapropterin" at the Connecting the WORLD of PKU in Hamburg, Germany. Oct 2025.

Ficicioglu C. Changing Landscape; Pharmacological Options  Sapropterin International Congress :Connecting the World of PKU   Hamburg, Germany. Oct 2025.

Ficicioglu C. Long-term safety and efficacy of pegtibatinase for treatment of classical homocystinuria (HCU): data from the Phase 1/2 
COMPOSE-open-label extension study. the 15th International ongress of Inborn Errors of Metabolism (ICIEM2025). Kyoto, Japan. Sept 2025.

2024

Ficicioglu C. Long-term outcomes of patients with Lysosomal Acid Lipase Deficiency: CHOP experience. ESPGHAN Meeting 2024, Milan, Italy. May 2024.

2023

Ficicioglu C. "Asymptomatic to severe, the variability in Lysosomal Storage Disorders: Integrating the basics with current clinical practices, GRIDS2023, Virginia  USA. Nov 2023.

Ficicioglu C. "Pegtibatinase, an investigational enzyme replacement therapy for the treatment of classical homocystinuria (HCU): latest findings from the COMPOSE Phase 1/2 trial" SSIEM Annual Symposium, Jerusalem , Israel. Sept 2023.

Ficicioglu C. "RGX-121 Gene Therapy for the Treatment of Severe Mucopolysaccharidosis Type II (MPS II): CAMPSIITE™ Phase I/II/III:  A Clinical Study Update" The 44th SIMD annual meeting, Salt Lake city, UT, USA. Mar 2023.

Ficicioglu C. "RGX-121 Gene Therapy for the Treatment of Severe Mucopolysaccharidosis Type II (MPS II): CAMPSIITE™ Phase I/II/III:  A Clinical Study Update". WORLD LSD symposium, Orlando, ,FL, USA. Feb 2023.

1994

Ficicioglu C: Diabetes Guide. Translated from Diabetes Guide. Klaus Johansen, Sam Dagogo-Jack. Springer-Verlag. 1994.

1993

Haktan M, Aydin A, Cam H, Ficicioglu C: Advances in Metabolic Diseases. Pediatrik metabolizma ve beslenme dernegi yayin no 1 1993.

2024

Ficicioglu C, Stepien K: Alpha-Mannosidosis. GeneReviews 2024.

2021

Ficicioglu, C: The Editor's Choice for Issue 2, Volume 7. Int J Neonatal Screen. 2021.

2019

Lazzara A, Daymont C, Ladda R, Lull J, Ficicioglu C, Cohen JL, Aprile J.: Failure to Thrive: An Expanded Differential Diagnosis. J Pediatr Genet.  8(1): 27-32, Mar 2019.

Chinsky JM, Ficicioglu C, Scott RC.: Response to Neeleman et al. Genet Med. 2019.

Cohen JL, Burfield J, Valdez-Gonzalez K, Samuels A, Stefanatos AK, Yudkoff M, Pedro H, Ficicioglu C.: Early diagnosis of infantile-onset lysosomal acid lipase deficiency in the advent of available enzyme replacement therapy. Orphanet J Rare Dis. 2019.

2017

Dowsett L, Lulis L, Ficicioglu C, Cuddapah S.: Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency. Int J Neonatal Screen 3(2): doi: 10.3390, Jun 2017.

Can Ficicioglu : Chapter: Disorders of Amino Acids Metabolism.Book: Metabolic Diseases: Foundations of Clinical Management, Genetics, and Pathology Editors: Enid Gilbert-Barness and Lew Barness, Coordinating Editor: Philip M. Farrell  IOS Press BV 2017.

Ganetzky RD, Bedoukian E, Deardorff MA, Ficicioglu C: Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen. JIMD Reports 34: 43-47, 2017.

2016

Ahrens-Nicklas R, Pyle L and Ficicioglu C : "Response to van Rijt and co-authors Neonates at risk of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: a perinatal protocol for before population neonatal screening test results become available" Genetics in Medicine 8(1): 1324, December 2016.

Edmondson AC, Salant J, Ierardi-Curto LA,Ficicioglu C.: Missed newborn screening case of carnitine palmitoyltransferase-II deficiency. JIMD Reports 33: 93-94, 2016.

Ganetzky RD,  Bloom K,   Ahrens-Nicklas R,  Edmondson A, Deardorff MA, Bennett MJ, Ficicioglu C.: ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis. JIMD Rep 30: 33-37, 2016.

2015

E.J. Bhoj, M. Li, R. Ahrens-Nicklas, L.C. Pyle, J. Wang, V.W. Zhang, C. Clarke, L.J. Wong, N. Sondheimer, C. Ficicioglu, M. Yudkoff: Pathologic Variants of the Mitochondrial Phosphate Carrier SLC25A3: Two New Patients and Expansion of the Cardiomyopathy/Skeletal Myopathy Phenotype With and Without Lactic Acidosis.  JIMD reports  19: 59-66, February  2015.

Ahrens-Nicklas RC,Serdaroglu E,Muraresku C,Ficicioglu C.: Cobalamin C disease missed by newborn screening  in a patient with low carnitine level. JIMD Reports 38(3): 617, May 2015.

Ahrens-Nicklas RC,Edmondson AC,Ficicioglu C.: An 8-year old girl with abdominal pain and mental status changes  Pediatric Emergency Care  31(6): 459-62, June 2015.

Ganetzky R, Ficicioglu C: Inborn Errors of Metabolism. The Philadelphia Guide: Inpatient Pediatrics, 2nd Edition. Samir Shah Marina Catallozzi Lisa Zaoutis (eds) (eds.). McGraw Hill Professional, December 2015.

Rezvani I, Ficicioglu C: Phenylketonuria. Nelson Textbook of Pediatrics, Twentieth Edition edited by Robert Kliegman, MD, Bonita F. Stanton, MD, Joseph St. Geme III, MD and Nina Schor, MD. Elsevier  2015.

2014

Chadwick S, Fitzgerald K, Weiss B, Ficicioglu C: Thirteen patients with MAT1A mutations detected through newborn screening: 13 years experience  JIMD reports 14: 71-76, January 2014.

Aleman TS, Brodie F, Garvin C, Gewaily DY, Ficicioglu CH, Mills MD, Forbes BJ, Maguire AM, Davidson SL.: Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications. Ophthalmic Genet.  36(4): 339-48, February 2014 

D'Aco KE,Bearden D,Watkins D,Hyland K,Rosenblatt D,Ficicioglu C: Severe 5,10-Methylenetetrahydrofolate Reductase Deficiency and 2 MTHFR Variants in an Adolescent with Progressive Myoclonic Epilepsy. Pediatric Neurology 51(2): 266-70, August 2014.

2013

Coughlin CR, Hyland K,Randall R,Ficicioglu C: Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: A case report. JIMD reports 10: 53-6, 2013 

Ficicioglu C and Yudkoff M. : Urea Cycle: Disease aspects. Encyclopedia of Biological Chemistry, 2nd edition. William Lennarz, Daniel M. Lane   (eds.). Elsevier, 2013.

Ficicioglu C, Dubroff JG, Thomas N , Gallagher PR, Burfield J, Hussa C. Randall R. Zhuang H: A pilot study of fluorodeoxyglucose positron emission tomography findings in patients with phenylketonuria before and during sapropterin supplementation. Journal of Clinical Neurology 9(3): 151-6, 2013.

Hazard FK, Ficicioglu CH, Ganesh J, Ruchelli ED.: Liver pathology in infantile mitochondrial DNA depletion syndrome. Pediatr Dev Pathol 16(6): 415-24, 2013.

2012

Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE.: Long-term follow-up of four patients affected by HHH syndrome. Clin Chim Acta.  413(13-14): 1151-5, Jul 2012.

Can Ficicioglu: Acute metabolic encephalopathy. Pediatric Neurocritical Care. Nicholas Abend, Mark Haelfer (eds.). 2012.

Ficicioglu C, Bearden D: Reply to: Isolated Neonatal Seizures: Adenylosuccinase Deficiency is Another Cause! Pediatric Neurology 47(3): 228-229, 2012.

2011

Fukao T, Sass JO, Kursula P, Thimm E, Wendel U, Ficicioglu C, Monastiri K, Guffon N, Barić I, Zabot MT, Kondo N.: Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta.  1812(5): 619-24, May 2011.

2010

Coughlin C R, Ficicioglu C: Genotype phenotype correlations:   Sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency.  J Inherit Metab Dis. 33(Suppl 3): 129-31, January 2010.

Ficicioglu C, Coughlin C, Bennett M, Yudkoff M. : Very-Long-Chain Acyl-COA Dehydrogenase Deficiency in Two Patients with Normal Newborn Screening by Tandem Mass Spectrometry. Journal of Pediatrics 156(3): 492-4, March 2010.

Freer DE*, Ficicioglu C*, Vaughn P, Finegold D. *These authors contributed equally to this work.: Newborn Screening for Galactosemia: A Review of 5 Years of Data and Audit of a Revised Reporting Approach. Clinical Chemistry  56(3): 437-44, March 2010.

Ficicioglu C: Reply to : A Near Miss: Very Long Chain Acyl-CoA Dehydrogenase Deficiency with Normal Primary Markers in the Initial Well-timed Newborn Screening Specimen. Journal of Pediatrics 158(1): 172-173, 2010.

2009

Ficicioglu C, Hussa C. : Very Long Chain Acyl Co-A Dehydrogenase Deficiency: The effects of accidental fat loading in a patient detected through newborn screening. J Inherit Metab Dis 32(suppl1): 187-90, June 2009.

Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Feigenbaum A.: A Delphi Clinical Practice Protocol for the Management of Very Long Chain Acyl-CoA Dehydrogenase Deficiency.  Mol Genet Metab. 96(3): 85-90, 2009.

2008

Chapman K, Ganesh J, Ficicioglu C.: A false positive newborn screen: Goat's milk acidopathy.  Pediatrics  122(1): 210-1, 2008.

Deardorff M A , Gaddipati H ,  Kaplan P , Sanchez-Lara PA , Sondheimer  N,  Spinner NB ,  Hakonarson H , Ficicioglu C,  Ganesh J ,   Markello   T ,Loechelt  B , Zand   DJ , Yudkoff  M , Lichter-Konecki U : Complex Management of a Patient with a ContiguousXp11.4 Gene Deletion Involving Ornithine Transcarbamylase: A Role for Detailed Molecular Analysis in Complex Presentations of Classical Diseases.  Mol Genet Metab  94(4): 498-502, 2008.

Hoffman T L, Vossough A., Ficicioglu C ,Visootsak J.: Brain Magnetic Resonance Imaging Findings in 49,XXXXY Syndrome.  Pediatric Neurology 38(6): 450-453, 2008.

Jethva R, Ficicioglu C: Clinical Outcomes of Infants with Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCADD) Detected by Newborn Screening.  Mol Genet Metab 95(4): 241-2, 2008.

2007

Okajima K, Korotchkina L G, Chitra P, Rupar T, Phillips III J A, Ficicioglu C, Hertecant J, Patel M S, Kerr D S.: Mutations of the E1-Beta Subunit Gene (PDHB) in Four Families with Pyruvate Dehydrogenase Deficiency.  Mol Genet Metab.  93(4): 371-80, April 2007.

Ficicioglu C, Hussa C, Yager C, Segal S.: Effect of galactose free formula on galactose -1-phosphate in two infants with classical Galactosemia.   Eur J Pediatr  167(5): 595-596, May 2007.

2006

Kaplan P, Ficicioglu C, Mazur A, Palmieri MJ, Berry GT. : Liver transplantation is not curative for Methylmalonic acidopathy caused by methylmalonyl-coA mutase deficiency.  Mol Genet Metab.  88(4): 322-326, August 2006.

Ficicioglu C, Payan I. : 3-Methylcrotonyl-CoA Carboxylase Deficiency: Metabolic decompensation in a non-compliant child detected through newborn screening.  Pediatrics  118(6): 2555-56, December 2006.

2005

Ficicioglu C, Chrisant MR, Payan I, Chace DH.: Cardiomyopathy and hypotonia in a 5-month old infant with Malonyl CoA Decarboxylase Deficiency: Potential for Preclinical Diagnosis with Expanded Newborn Screening. Pediatr Cardiol 26(6): 881-3, Nov-Dec 2005.

Campbell CD, Ganesh J, Ficicioglu C.: Two newborns with nutritional vitamin B12 deficiency: Challenges in newborn screening for vitamin B12 deficiency. Haematologica 90(12 Suppl): ECR45, Dec 2005.

Deberardinis R, Sondheimer N, Ficicioglu Can.:  Inborn Errors of Metabolism. The Philadelphia Guide: Inpatient Pediatrics. Gary Frank, Samir Shah, Lisa Zaoutis, and Marina Catallozzi  (eds) (eds.). Blackwell Publishing, 2005.

Hoffman T, Simon E, Ficicioglu C.: Biotinidase deficiency: the importance of adequate follow up of inconclusive newborn screening result. Eur J Pediatr 164(5): 298-301, 2005.

2000

Yalcinkaya C, Gibson KM, Gunduz E, Kocer N, Ficicioglu C, Kucukercan I: MRI Findings in Succinic Semialdehyde Dehydrogenase Deficiency. Neuropediatrics 1: 45-6, 2000.

1999

Aydin A, Mikla S, Ficicioglu C, Ozdemir S, Adal E: Nephrotic Syndrome Associated with Hepatitis A Virus Infection. Pediatr Infect Dis J 4: 391, 1999.

Yalcinkaya C, Dincer A, Gunduz E, Ficicioglu C, Kocer N, Aydin A: A MRI and MRS in HMG-CoA Lylase Deficiency. Pediatr Neurol 20(5): 375-80, 1999.

1997

Tasdan Y, Kirci F, Cam H, Ficicioglu C: Transient Hypertriglyceridemia in two infants with subcutaneous fat necrosis. Istanbul Cocuk Klinigi Dergisi 32: 54-57, 1997.

Yalcinkaya C, Ficicioglu C, Topalkara I, Demirbilek V. : L-2 hydroxyglutaric aciduria: MRI findings in three patients.  Istanbul Cocuk Klinigi Dergisi 2: 67-69, 1997.

1996

Ficicioglu C, Aydin A, Mikla S, Cam H, Shin Y.: Neonatal - onset severe recurrent hypoglycemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes.  J Inher Metab Dis  19: 84-85, 1996.

Ficicioglu C, Burlina A, Muntau A, Demirkol M, Shin YS: Increased Plasma Biotinidase Activity in Patients with glycogen storage disease type 1a. Trials with Biotin supplementation.  In: Diagnosis and Treatment of inborn Errors of Metabolism: Contributions to equal opportunity for children in Asia and Europe.  Eds.Demirkol and Shin (eds.). Page: 132-135, 1996.

1995

Ficicioglu C, Cam H, Aydin A, Yalcindag C, Mikal S, Dogusoy G: Retrospective Analysis of Three Infants with GM1 Gangliosidosis Type 2. Turk Clinic Pediatri 4: 80-82, 1995.

1994

Cam H, Aydin A, Ficicioglu C, Mikla  S. : Pseudo-Bartter syndrome in an infant with cystic fibrosis. Istanbul Cocuk Klinigi Dergisi. 29: 244-246, 1994.

1992

Cam H, Aydin A, Haktan M, Ficicioglu C. : Retrospective analysis  of  10 familial hypercholesterolemia cases. Istanbul Cocuk Klinigi. 27: 46-50, 1992.