Selected Publications

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 2017 Notes: Accepted for publication.

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, Page: 1-7, 2017 Notes: Published online ahead of print

Ahrens-Nicklas RC, Pyle LC, Ficicioglu C: Morbidity and Mortality Among Exclusively Breastfed Neonates With Medium 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.

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.

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.

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.

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.

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(1): 99, August 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.