Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Divry, Priscille"'
Autor:
Hinson, Debra D., Ross, Richard M., Krisans, Skaidrite, Shaw, Joanne L., Kozich, Viktor, Rolland, Marie-Odile, Divry, Priscille, Mancini, Josette, Hoffmann, Georg F., Gibson, K. Michael *
Publikováno v:
In The American Journal of Human Genetics August 1999 65(2):327-335
Autor:
Lamhonwah, Anne-Marie, Olpin, Simon E., Pollitt, Rodney J., Vianey-Saban, Christine, Divry, Priscille, Guffon, Nathalie, Besley, Guy T., Onizuka, Rusell, De Meirleir, Linda J., Cvitanović-Sojat, Ljerka, Barić, Ivo, Dionisi-Vici, Carlo, Fumić, Ksenija, Maradin, Miljenka, Tein, Ingrid
Primary systemic carnitine deficiency or carnitine uptake defect (OMIM 212140) is a potentially lethal, autosomal recessive disorder characterized by progressive infantile-onset cardiomyopathy, weakness, and recurrent hypoglycemic hypoketotic encepha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8e4568ab74addaca0ee49cae839fc907
https://biblio.vub.ac.be/vubir/novel-octn2-mutations-no-genotypephenotype-correlations-early-carnitine-therapy-prevents-cardiomyopathy(e33c7949-f7e1-4557-bd4b-06607f979059).html
https://biblio.vub.ac.be/vubir/novel-octn2-mutations-no-genotypephenotype-correlations-early-carnitine-therapy-prevents-cardiomyopathy(e33c7949-f7e1-4557-bd4b-06607f979059).html
Autor:
Vallée, Louis, Fontaine, Monique, Nuyts, Jean-Pierre, Ricart, Guy, Krivosic, Ivan, Divry, Priscille, Vianey-Saban, Christine, Lhermitte, Michel, Vamecq, Joseph
Publikováno v:
European Journal of Pediatrics; 1994, Vol. 153 Issue 8, p598-603, 6p
Autor:
Andresen, Brage Storstein, Bross, Peter, Vianey-Saban, Christine, Divry, Priscille, Zabot, Marie-Thérèse, Roe, Charles R., Nada, Mohamed A., Byskov, Annette, Kruse, Torben A., Neve, Søren, Kristiansen, Karsten, Knudsen, Inga, Corydon, Morten Juhl, Gregersen, Niels
Publikováno v:
Human Molecular Genetics; Apr1996, Vol. 5 Issue 4, p461-472, 12p
Autor:
Stanley, Charles A., DeLeeuw, Susan, Coates, Paul M., Vianey-Liaud, Christine, Divry, Priscille, Bonnefont, Jean-Paul, Saudubray, Jean-Marie, Haymond, Morey, Trefz, Friedrich K., Breningstall, Galen N., Wappner, Rebecca S., Byrd, Dennis J., Sansaricq, Claude, Tein, Ingrid, Grover, Warren, Valle, David, Rutledge, S. Lane, Treem, William R.
Publikováno v:
Annals of Neurology; 1991, Vol. 30 Issue 5, p709-716, 8p
Autor:
Hoffmann, Georg E., Charpentier, Christiane, Mayatepek, Ertan, Mancini, Josette, Leichsenring, Michael, Gibson, K. Michael, Divry, Priscille, Hrebicek, Martin, Lehnert, Willy, Sartor, Klaus, Trefz, Friedrich K., Rating, Dietz, Bremer, Hans J., Nyhan, William L.
Publikováno v:
Pediatrics; May93, Vol. 91 Issue 5, p915, 7p
Autor:
Lamhonwah, Anne-Marie, Olpin, Simon E., Pollitt, Rodney J., Vianey-Saban, Christine, Divry, Priscille, Guffon, Nathalie, Besley, Guy T. N., Onizuka, Russell, Meirleir, Linda J. De, Cvitanovic-Sojat, Ljerka, Baric, Ivo, Dionisi-Vici, Carlo, Fumic, Ksenija, Maradin, Miljenka, Tein, Ingrid
Publikováno v:
American Journal of Medical Genetics. Part A; 15 August 2002, Vol. 111 Issue: 3 p271-284, 14p
Autor:
Zapater, Núria, Pié, Juan, Lloberas, Jorge, Rolland, Marie-Odile, Leroux, Bernard, Vidailhet, Michel, Divry, Priscille, Hegardt, Fausto G., Casals, Núria
Publikováno v:
Archives of Biochemistry and Biophysics; October 1998, Vol. 358 Issue: 2 p197-203, 7p
Autor:
PIÉ, Juan, CASALS, Núria, CASALE, Cesar H., BUESA, Carlos, MASCARÓ, Cristina, BARCELÓ, Anna, ROLLAND, Marie-Odile, ZABOT, Theresa, HARO, Diego, EYSKENS, François, DIVRY, Priscille, HEGARDT, Fausto G.
Publikováno v:
Biochemical Journal; April 1997, Vol. 323 Issue: 2 p329-335, 7p
Autor:
Touraine, Renaud-Laurian, Rolland, Marie-Odile, Divry, Priscille, Mathieu, Monique, Guibaud, Pierre, Bozon, Dominique
Publikováno v:
Human Mutation; 1995, Vol. 5 Issue 4, p354-356, 3p