by Shayota, Brian J., Donti, Taraka R., Xiao, Jing, Gijavanekar, Charul, Kennedy, Adam D., Hubert, Leroy, Rodan, Lance, Vanderpluym, Christina, Nowak, Catherine, Bjornsson, Hans T., Ganetzky, Rebecca, Berry, Gerard T., Pappan, Kirk L., Sutton, V. Reid, Sun, Qin, Elsea, Sarah H.
Published in Molecular genetics and metabolism (01.09.2020)

by Sebesta, I., Stiburkova, B., Krijt, J.
Published in Nucleosides, nucleotides & nucleic acids (01.01.2018)

by Nanthapisal, Sira, Murphy, Claire, Omoyinmi, Ebun, Hong, Ying, Standing, Ariane, Berg, Stefan, Ekelund, Maria, Jolles, Stephen, Harper, Lorraine, Youngstein, Taryn, Gilmour, Kimberly, Klein, Nigel J., Eleftheriou, Despina, Brogan, Paul A.
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.09.2016)

by Pillai, Nishitha R., Stroup, Bridget M., Poliner, Anna, Rossetti, Linda, Rawls, Brandy, Shayota, Brian J., Soler-Alfonso, Claudia, Tunuguntala, Hari Priya, Goss, John, Craigen, William, Scaglia, Fernando, Sutton, V. Reid, Himes, Ryan Wallace, Burrage, Lindsay C.
Published in Molecular genetics and metabolism (01.12.2019)

by Tokatly Latzer, Itay, Roullet, Jean-Baptiste, Afshar-Saber, Wardiya, Lee, Henry H. C., Bertoldi, Mariarita, McGinty, Gabrielle E., DiBacco, Melissa L., Arning, Erland, Tsuboyama, Melissa, Rotenberg, Alexander, Opladen, Thomas, Jeltsch, Kathrin, García-Cazorla, Àngels, Juliá-Palacios, Natalia, Gibson, K. Michael, Sahin, Mustafa, Pearl, Phillip L.
Published in Journal of neurodevelopmental disorders (24.04.2024)

by Verberk, Sanne G.S., Hahn, Nico, Heister, Daan, Haverkamp, Jorien, Snelder, Khya S., de Goede, Kyra E., Gorki, Friederieke S., Hendriks, Jerome J.A., Houtkooper, Riekelt H., Visser, Gepke, Sjouke, Barbara, Langeveld, Mirjam, Van den Bossche, Jan
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2025)

by Vockley, Jerry, Marsden, Deborah, McCracken, Elizabeth, DeWard, Stephanie, Barone, Amanda, Hsu, Kristen, Kakkis, Emil
Published in Molecular genetics and metabolism (01.09.2015)

by Pearson, Toni S, Gilbert, Laura, Opladen, Thomas, Garcia-Cazorla, Angeles, Mastrangelo, Mario, Leuzzi, Vincenzo, Tay, Stacy K H, Sykut-Cegielska, Jolanta, Pons, Roser, Mercimek-Andrews, Saadet, Kato, Mitsuhiro, Lücke, Thomas, Oppebøen, Mari, Kurian, Manju A, Steel, Dora, Manti, Filippo, Meeks, Kathleen D, Jeltsch, Kathrin, Flint, Lisa
Published in Journal of Inherited Metabolic Disease (01.09.2020)

by He, Yifan, Zhang, Xiaoqing, Shao, Yong, Xu, Biao, Cui, Yue, Chen, Xiao, Chen, Hong, Luo, Can, Ding, Min
Published in Biochimica et biophysica acta. Molecular basis of disease (01.01.2022)

by Yoshida, Hiroshi, Tada, Hayato, Ito, Kumie, Kishimoto, Yoshimi, Yanai, Hidekatsu, Okamura, Tomonori, Ikewaki, Katsunori, Inagaki, Kyoko, Shoji, Tetsuo, Bujo, Hideaki, Miida, Takashi, Yoshida, Masayuki, Kuzuya, Masafumi, Yamashita, Shizuya
Published in Journal of Atherosclerosis and Thrombosis (01.05.2020)

by Kanuri, Babunageswararao, Fong, Vincent, Ponny, Sithara Raju, Weerasekera, Ranjuna, Pulakanti, Kirthi, Patel, Kriya S., Tyshynsky, Roman, Patel, Shailendra B.
Published in Journal of lipid research (01.01.2021)

by Hennet, Thierry
Published in Biochimica et biophysica acta (01.09.2012)

by Farooqi, I. Sadaf, Wangensteen, Teresia, Collins, Stephan, Kimber, Wendy, Matarese, Giuseppe, Keogh, Julia M, Lank, Emma, Bottomley, Bill, Lopez-Fernandez, Judith, Ferraz-Amaro, Ivan, Dattani, Mehul T, Ercan, Oya, Myhre, Anne Grethe, Retterstol, Lars, Stanhope, Richard, Edge, Julie A, McKenzie, Sheila, Lessan, Nader, Ghodsi, Maryam, De Rosa, Veronica, Perna, Francesco, Fontana, Silvia, Barroso, Inês, Undlien, Dag E, O'Rahilly, Stephen
Published in The New England journal of medicine (18.01.2007)

by Snyder, Matthew T., Divin, Kristian, Liu, Ning, Sun, Qin, Wang, Yue, Luo, Xi, Ben-Moshe, Yishay, Burrage, Lindsay C., Sutton, V. Reid
Published in Molecular genetics and metabolism (01.08.2025)

by Furuta, Yutaka, Tinker, Rory J., Hamid, Rizwan, Cogan, Joy D., Ezell, Kimberly M., Oglesbee, Devin, DeBerardinis, Ralph J., Phillips, John A.
Published in Orphanet journal of rare diseases (14.11.2024)

by Manoli, Irini, Gebremariam, Abigael, McCoy, Samantha, Pass, Alexandra R., Gagné, Jack, Hall, Camryn, Ferry, Susan, Van Ryzin, Carol, Sloan, Jennifer L., Sacchetti, Elisa, Catesini, Giulio, Rizzo, Cristiano, Martinelli, Diego, Spada, Marco, Dionisi‐Vici, Carlo, Venditti, Charles P.
Published in Journal of inherited metabolic disease (01.07.2023)

by Pearl, Phillip L, DiBacco, Melissa L, Papadelis, Christos, Opladen, Thomas, Hanson, Ellen, Roullet, Jean-Baptiste, Gibson, K Michael
Published in Journal of child neurology (01.11.2021)

by Ghosh, Arunabha, Schlecht, Helene, Heptinstall, Lesley E, Bassett, John K, Cartwright, Eleanor, Bhaskar, Sanjeev S, Urquhart, Jill, Broomfield, Alexander, Morris, Andrew AM, Jameson, Elisabeth, Schwahn, Bernd C, Walter, John H, Douzgou, Sofia, Murphy, Helen, Hendriksz, Chris, Sharma, Reena, Wilcox, Gisela, Crushell, Ellen, Monavari, Ardeshir A, Martin, Richard, Doolan, Anne, Senniappan, Senthil, Ramsden, Simon C, Jones, Simon A, Banka, Siddharth
Published in Archives of disease in childhood (01.11.2017)

by Mlčoch, T, Puda, R, Ješina, P, Lhotáková, M, Štěrbová, Š, Doležal, T
Published in European journal of clinical nutrition (01.01.2018)

by Nardecchia, Francesca, Ricciardi, Giacomina, Carducci, Claudia, Mastrangelo, Mario, Manti, Filippo, Pisani, Francesco, Leuzzi, Vincenzo
Published in Parkinsonism & related disorders (01.07.2025)