Zobrazeno 1 - 10
of 162
pro vyhledávání: '"RODY P. Cox"'
Autor:
Hausman, Robert E.
Publikováno v:
American Scientist, 1975 Sep 01. 63(5), 579-579.
Externí odkaz:
https://www.jstor.org/stable/27845718
Autor:
Roth, Stephen
Publikováno v:
The Quarterly Review of Biology, 1975 Sep 01. 50(3), 310-311.
Externí odkaz:
https://www.jstor.org/stable/2822287
Autor:
J. D. Pitts
Publikováno v:
Science. 188:1105-1105
Autor:
Nicholas Ah Mew, Wado Akamatsu, Hasan Orhan Akman, Afnan AlHakeem, Koji Aoyama, Rafael Artuch, Michael Beck, C. Frank Bennett, Gerard T. Berry, D. Montgomery Bissell, Brenda Canine, C. Thomas Caskey, Widler Casy, Patrick F. Chinnery, David T. Chuang, Emily K. Cook, Rody P. Cox, Philip L. De Jager, Didem Demirbas, Robert J. Desnick, Salvatore DiMauro, Florian S. Eichler, Bernice Elger, Valentina Emmanuele, Patricia Evans, Brent L. Fogel, Àngels García-Cazorla, Cinzia Gellera, Sailaja Golla, Kimberly Goodspeed, Sidney M. Gospe, Steven J. Gray, Andrea L. Gropman, Yian Gu, Renzo Guerrini, Teresa M. Gunn, Una Hadziahmetovic, Darrah Haffner, R.J. Hagerman, Tamar Harel, Elizabeth Head, Rita Horvath, Yasushi Hosoi, Ying-Chen Claire Hou, Jane Hsiao, Hiroyuki Ishiura, Clifford R. Jack, Vikram Jakkamsetti, William G. Johnson†, Fabrice Jotterand, John P. Kane, Olga Khorkova, Chisato Kinoshita, Sanne E. Klompe, Lisa M. Koehl, Michael C. Kruer, Walter A. Kukull, Roger M. Lane, Joseph H. Lee, M.J. Leigh, Qinglan Ling, James R. Lupski, Paola Luzi, Qian Ma, Gustavo H.B. Maegawa, Mary J. Malloy, Seth S. Margolis, Isaac Marin-Valencia, James A. Mastrianni, Dena Matalon, Reuben Matalon, Kimberlee Michals Matalon Rd, Jennifer M. Mathews, Richard Mayeux, Jennifer McCurdy, Meira R. Meltzer, John H. Menkes†, Justin Miron, Jun Mitsui, Hiroaki Miyajima, Lisa M. Monteggia, Mary Ann Morris, Hugo W. Moser†, Melissa E. Murray, Toshio Nakaki, Nathalie Nilsson, Ichizo Nishino, Sandra M.H. Nordlie, Robert L. Nussbaum, William L. Nyhan, Hideyuki Okano, Sergio Padilla-Lopez, Elena Parrini, Juan M. Pascual, Gregory M. Pastores, Shailendra B. Patel, Marc C. Patterson, Izabella A. Pena, Cynthia Picard, Judes Poirier, Jennifer E. Posey, Gerald V. Raymond, William Renthal, David S. Rosenblatt, Francis Rossignol, Gerald Salen, Konrad Sandhoff, Raphael Schiffmann, Detlev Schindler, Frederick A. Schmitt, Susanne A. Schneider, Eric A. Schon, Edward H. Schuchman, Margretta Reed Seashore, Frances C. Shaffo, Michael Shevell, Sarah E. Sinnett, Myriam Srour, Samuel H. Sternberg, Kazuma Sugie, Kristen L. Szabla, Franco Taroni, Marina Tedeschi Dauar, Shoji Tsuji, Wendy R. Uhlmann, Clara van Karnebeek, Kathryn L. Van Pelt, Prashanthi Vemuri, Charles P. Venditti, Claes Wahlestedt, Bruce Wang, David Watkins, David A. Wenger, Charles A. Williams, Golder N. Wilson, Barry Wolf, R. Max Wynn, Hung-Chun Yu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::57d33606a0dd70f9459d3237b2c69dcb
https://doi.org/10.1016/b978-0-12-813955-4.00079-9
https://doi.org/10.1016/b978-0-12-813955-4.00079-9
Publikováno v:
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease ISBN: 9780128139554
Maple syrup urine disease (MSUD) is an autosomal-recessive disorder caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex (BCKDC). Patients with MSUD show variable degrees of enzyme deficiency leading to several distinct phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::90b2946aaf55ca6dcd878c6c7dfaf720
https://doi.org/10.1016/b978-0-12-813955-4.00063-5
https://doi.org/10.1016/b978-0-12-813955-4.00063-5
Autor:
Bard, J
Publikováno v:
Cell; 1975, Vol. 4 Issue: 4 p407-407, 1p
Autor:
Kathleen Schmidt, Rody P. Cox, Karen Knopf, Seymour Packman, Maria del Carmen Gonzalez-Rios, David T. Chuang
Publikováno v:
Clinical Genetics. 27:153-159
Branched chain alpha-ketoacid dehydrogenase (BCKAD) deficiency, or maple syrup urine disease (MSUD), can be categorized as classical, intermediate, intermittent or thiamine responsive, based on generally concordant in vitro BCKAD activity and severit
Autor:
Nicholas Ah Mew, Wado Akamatsu, Hasan Orhan Akman, Koji Aoyama, W. David Arnold, Rafael Artuch, Robert M. Bachoo, Sergio E. Baranzini, Michael Beck, Merrill D. Benson, Vladimir M. Berginer, Gerard T. Berry, Kevin M. Biglan, Thomas D. Bird, D. Montgomery Bissell, Michael H. Bloch, Aldobrando Broccolini, Robert H. Brown, Allison Caban-Holt, Brenda Canine, C. Thomas Caskey, Patrick F. Chinnery, David T. Chuang, Jacinta L. Chuang, Bernard A. Cohen, Anne M. Comi, Rody P. Cox, John C. Crabbe, Marie Y. Davis, Darryl C. De Vivo, Robert J. Desnick, Stefano Di Donato, Salvatore DiMauro, Michael M. Dowling, David A. Dyment, Florian S. Eichler, Ramyiadarsini Elangovan, Bernice Elger, Sara Elrefai, Orna Elroy-Stein, Bakri H. Elsheikh, Andrew G. Engel, Patricia Evans, Stanley Fahn, Scott C. Fears, John K. Fink, Theodore Friedmann, Martin J. Gallagher, Àngels García-Cazorla, Jill S. Goldman, Sailaja Golla, Sidney M. Gospe, William D. Graf, Robert C. Griggs, Andrea L. Gropman, Yian Gu, Teresa M. Gunn, David H. Gutmann, Richard Haas, Randi J. Hagerman, Matti J. Haltia, Emma B. Hare, Tamar Harel, Stephen L. Hauser, Elizabeth Head, James E. Hilbert, Eric P. Hoffman, Othon Iliopoulos, Hiroyuki Ishiura, Monica P. Islam, Clifford R. Jack, William G. Johnson, Fabrice Jotterand, Heinz Jungbluth, John P. Kane, Clara van Karnebeek, Saima N. Kayani, Pravin Khemani, Fenella J. Kirkham, A. Yasmine Kirkorian, John T. Kissel, Christine Klein, Kleopas A. Kleopa, Satoshi Kono, Michael C. Kruer, Walter A. Kukull, Jessica B. Lennington, David A. Lewis, Wen-Chen Liang, Katja Lohmann, Paul J. Lombroso, Reymundo Lozano, James R. Lupski, Paola Luzi, Qian Ma, Robert L. Macdonald, Gustavo H.B. Maegawa, Elizabeth A. Maher, Mary J. Malloy, Ami K. Mankodi, Douglas A. Marchek, Isaac Marin-Valencia, Frederick J. Marshall, James A. Mastrianni, Reuben Matalon, Richard Mayeux, Jennifer L. McCurdy, Andrew J. McGarry, John H. Menkes, Giovanni Meola, Ana Metelo, Kimberlee Michals Matalon, Bruce L. Miller, Massimiliano Mirabella, Justin Miron, Jun Mitsui, Hiroaki Miyajima, Shuki Mizutani, Sara E. Mole, Lisa M. Monteggia, Hugo W. Moser, Mary Ann Morris, Richard T. Moxley, Jennifer M. Mueller, Francesco Muntoni, Melissa E. Murray, Toshio Nakaki, Charles B. Nemeroff, Ichizo Nishino, William L. Nyhan, Hideyuki Okano, Jorge R. Oksenberg, Adam P. Ostendorf, Massimo Pandolfo, Maria Belen Pappa, Carmen Paradas, Juan M. Pascual, Gregory M. Pastores, Shailendra B. Patel, Marc C. Patterson, Davut Pehlivan, Scott D. Philibin, Cynthia Picard, Judes Poirier, Louis J. Ptáček, Geetha L. Radhakrishnan, Jeffrey W. Ralph, Sreeram V. Ramagopalan, Gerald V. Raymond, William Renthal, Victor I. Reus, E. Steve Roach, Roger N. Rosenberg, David S. Rosenblatt, Gerald Salen, Konrad Sandhoff, Lawrence D. Scahill, Steven S. Scherer, Raphael Schiffmann, Detlev Schindler, Frederick Schmitt, Susanne A. Schneider, Eric A. Schon, Edward H. Schuchman, Nicole Schupf, Margretta Reed Seashore, Dennis J. Selkoe, Caroline Sewry, Michael Shevell, Shunichiro Shinagawa, Jemeen Sreedharan, Myriam Srour, Kazuma Sugie, Kristen L. Szabla, Steven T. Szabo, Gábor Szuhay, Franco Taroni, Rabi Tawil, Mireia Tondo, Shoji Tsuji, Bjarne Udd, Wendy R. Uhlmann, Flora M. Vaccarino, Prashanthi Vemuri, Charles P. Venditti, David W. Volk, Dong Wang, David Watkins, David A. Wenger, Charles A. Williams, Kathleen S. Wilson, Golder N. Wilson, Barry Wolf, R. Max Wynn, Shihui Yu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b843a1405130c528b83088edd17d968f
https://doi.org/10.1016/b978-0-12-410529-4.09990-3
https://doi.org/10.1016/b978-0-12-410529-4.09990-3
Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by a deficiency of the branched-chain α-ketoacid dehydrogenase complex (BCKDC). Patients with MSUD show variable degrees of enzyme deficiency leading to several distinct phen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44161c635a6fcd1ad76dfbb98bb1b4bd
https://doi.org/10.1016/b978-0-12-410529-4.00059-0
https://doi.org/10.1016/b978-0-12-410529-4.00059-0
Publikováno v:
Journal of Clinical Investigation. 100:736-744
Maple syrup urine disease (MSUD) or branched-chain alpha-ketoaciduria is an autosomally inherited disorder in the catabolism of branched-chain amino acids leucine, isoleucine, and valine. The disease is characterized by severe ketoacidosis, mental re