Entries of Arcos-Burgos, Mauricio on the publication server
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Number of items: 3.
2014
Klootwijk, Enriko D., Reichold, Markus, Helip-Wooley, Amanda, Tolaymat, Asad, Broeker, Carsten, Robinette, Steven, Reinders, Jörg, Peindl, Dominika Elisabeth, Renner, Kathrin, Eberhart, Karin, Aßmann, Nadine, Oefner, Peter J., Dettmer, Katja, Sterner, Christina, Schroeder, Josef, Zorger, Niels, Witzgall, Ralph, Reinhold, Stephan W., Stanescu, Horia C., Bockenhauer, Detlef, Jaureguiberry, Gracian, Courtneidge, Holly, Hall, Andrew M., Wijeyesekera, Anisha, Holmes, Elaine, Nicholson, Jeremy K., O'Brien, Kevin, Bernardini, Isa, Krasnewich, Donna M., Arcos-Burgos, Mauricio, Izumi, Yuichiro, Nonoguchi, Hiroshi, Jia, Yuzhi, Reddy, Janardan K., Ilya, Mohammad, Unwin, Robert J., Gahl, William A., Warth, Richard and Kleta, Robert
(2014)
Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome.
The New England Journal of Medicine 370, pp. 129-138.
Fulltext not available.
2009
Bockenhauer, Detlef 
, Feather, Sally, Stanescu, Horia C., Bandulik, Sascha, Zdebik, Anselm A., Reichold, Markus, Tobin, Jonathan, Lieberer, Evelyn, Sterner, Christina, Landoure, Guida, Arora, Ruchi, Sirimanna, Tony, Thompson, Dorothy , Cross, J. Helen, van't Hoff, William, Al Masri, Omar, Tullus, Kjell, Yeung, Stella, Anikster, Yair, Klootwijk, Enriko, Hubank, Mike , Dillon, Michael J., Heitzmann, Dirk, Arcos-Burgos, Mauricio , Knepper, Mark A., Dobbie, Angus, Gahl, William A., Warth, Richard , Sheridan, Eamonn and Kleta, Robert
(2009)
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations.
New England Journal of Medicine 360 (19), pp. 1960-1970.
Fulltext not available.
, Feather, Sally, Stanescu, Horia C., Bandulik, Sascha, Zdebik, Anselm A., Reichold, Markus, Tobin, Jonathan, Lieberer, Evelyn, Sterner, Christina, Landoure, Guida, Arora, Ruchi, Sirimanna, Tony, Thompson, Dorothy , Cross, J. Helen, van't Hoff, William, Al Masri, Omar, Tullus, Kjell, Yeung, Stella, Anikster, Yair, Klootwijk, Enriko, Hubank, Mike , Dillon, Michael J., Heitzmann, Dirk, Arcos-Burgos, Mauricio , Knepper, Mark A., Dobbie, Angus, Gahl, William A., Warth, Richard , Sheridan, Eamonn and Kleta, Robert
(2009)
Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, andKCNJ10Mutations.
New England Journal of Medicine 360 (19), pp. 1960-1970.
Fulltext not available.
2004
Kleta, Robert, Romeo, Elisa, Ristic, Zorica, Ohura, Toshihiro, Stuart, Caroline, Arcos-Burgos, Mauricio , Dave, Mital H, Wagner, Carsten A, Camargo, Simone R M , Inoue, Sumiko, Matsuura, Norio, Helip-Wooley, Amanda, Bockenhauer, Detlef , Warth, Richard , Bernardini, Isa, Visser, Gepke, Eggermann, Thomas, Lee, Philip, Chairoungdua, Arthit, Jutabha, Promsuk, Babu, Ellappan, Nilwarangkoon, Sirinun, Anzai, Naohiko, Kanai, Yoshikatsu, Verrey, Francois , Gahl, William A and Koizumi, Akio
(2004)
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature Genetics 36 (9), pp. 999-1002.
Fulltext not available.
, Dave, Mital H, Wagner, Carsten A, Camargo, Simone R M , Inoue, Sumiko, Matsuura, Norio, Helip-Wooley, Amanda, Bockenhauer, Detlef , Warth, Richard , Bernardini, Isa, Visser, Gepke, Eggermann, Thomas, Lee, Philip, Chairoungdua, Arthit, Jutabha, Promsuk, Babu, Ellappan, Nilwarangkoon, Sirinun, Anzai, Naohiko, Kanai, Yoshikatsu, Verrey, Francois , Gahl, William A and Koizumi, Akio
(2004)
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Nature Genetics 36 (9), pp. 999-1002.
Fulltext not available.