Medical genetics and genomic medicine in Greece: achievements and challenges

by Manoli, Irini, Fryssira, Helen
Published 2015

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: Isolated methylmalonic acidemias (MMA)

by Manoli, Irini, Myles, Jennifer, Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.
Published 2015

Renal Growth in Isolated Methylmalonic Acidemia (MMA)

by Kruszka, Paul S., Manoli, Irini, Sloan, Jennifer L., Kopp, Jeffrey B., Venditti, Charles P.
Published 2013

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: Cobalamin C deficiency (cblC).¶

by Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Carrillo-Carrasco, Nuria, Morava, Eva, Strauss, Kevin A., Morton, Holmes, Venditti, Charles P.
Published 2015

Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

by Sparks, Susan, Rakocevic, Goran, Joe, Galen, Manoli, Irini, Shrader, Joseph, Harris-Love, Michael, Sonies, Barbara, Ciccone, Carla, Dorward, Heidi, Krasnewich, Donna, Huizing, Marjan, Dalakas, Marinos C, Gahl, William A
Published 2007

Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism

by Lerin, Carles, Goldfine, Allison B., Boes, Tanner, Liu, Manway, Kasif, Simon, Dreyfuss, Jonathan M., De Sousa-Coelho, Ana Luisa, Daher, Grace, Manoli, Irini, Sysol, Justin R., Isganaitis, Elvira, Jessen, Niels, Goodyear, Laurie J., Beebe, Kirk, Gall, Walt, Venditti, Charles P., Patti, Mary-Elizabeth
Published 2016

Exome sequencing identifies ACSF3 as the cause of Combined Malonic and Methylmalonic Aciduria

by Sloan, Jennifer L., Johnston, Jennifer J., Manoli, Irini, Chandler, Randy J., Krause, Caitlin, Carrillo-Carrasco, Nuria, Chandrasekaran, Suma D., Sysol, Justin R., O’Brien, Kevin, Hauser, Natalie S., Sapp, Julie C., Dorward, Heidi M., Huizing, Marjan, Barshop, Bruce A., Berry, Susan A., James, Philip M., Champaigne, Neena L., de Lonlay, Pascale, Valayannopoulos, Vassilli, Geschwind, Michael D., Gavrilov, Dimitar K., Nyhan, William L., Biesecker, Leslie G., Venditti, Charles P.
Published 2011