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Molecular Genetics and Metabolism, ISSN 1096-7192, 2011, Volume 103, Issue 2, pp. 107 - 112
Journal Article
Journal Article
by Marcogliese, Paul C and Shashi, Vandana and Spillmann, Rebecca C and Stong, Nicholas and Rosenfeld, Jill A and Koenig, Mary Kay and Martínez-Agosto, Julian A and Martínez-Agosto, Julián A and Herzog, Matthew and Herzog, Matthew R and Chen, Agnes H and Chen, Shan and Dickson, Patricia I and Lin, Henry J and Vera, Moin U and Salamon, Noriko and Graham, John M and Ortiz, Damara and Infante, Elena and Steyaert, Wouter and Dermaut, Bart and Poppe, Bruce and Chung, Hyung-Lok and Zuo, Zhongyuan and Lee, Pei-Tseng and Lee, Hane and Lee, Brendan and Lee, Brendan H and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Kevin S and Smith, Edward C and Jasien, Joan and Kansagra, Sujay and Spiridigliozzi, Gail and El-Dairi, Mays and Lark, Robert and Riley, Kacie and Koeberl, Dwight D and Golden-Grant, Katie and Callens, Steven and Coucke, Paul and Hemelsoet, Dimitri and Terryn, Wim and Van Coster, Rudy and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and ... and Undiagnosed Dis Network and Program Undiagnosed Dis UD-PrOZA and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 09/2018, Volume 103, Issue 3, pp. 456 - 456
Journal Article
Molecular Therapy, ISSN 1525-0016, 11/2007, Volume 15, Issue 11, pp. 2051 - 2051
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 2006, Volume 13, Issue S1, pp. S81 - S82
  Objective: The deficiency of glucose-6-phosphatase (G6Pase) underlies glycogen storage disease type Ia (GSD-Ia, also known as von Gierke disease; MIM... 
Journal Article
Molecular Therapy, ISSN 1525-0016, 2006, Volume 13, Issue S1, pp. S84 - S84
  We recently reported the complete correction of hyperphenylalaninemia in Pahenu2 mice, a model of human phenylketonuria (PKU), following portal vein... 
Journal Article
Molecular Therapy - Methods & Clinical Development, ISSN 2329-0501, 06/2019, Volume 13, pp. 493 - 493
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 06/2013, Volume 109, Issue 2, pp. 161 - 170
Journal Article