Number of items: 3.
Article
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.
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.
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.
This list was generated on Thu Jul 17 18:22:33 2025 CEST.