Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Schutgens, Ruud B. H."'
Autor:
Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Yajima, Shigehiro, Tomatsu, Shunji, Kondo, Naomi, Nakada, Yukikatsu, Akaboshi, Shinjiro, Iai, Mizue, Tanabe, Yuzo, Hashimoto, Takashi, Wanders, Ronald J. A., Schutgens, Ruud B. H., Moser, Hugo W., Orii, Tadao
We describe four infants with a novel subtype of an isolated deficiency of one of the peroxisomal beta-oxidation enzymes with detectable enzyme protein. The patients showed characteristic clinical and biochemical abnormalities, including hypotonia, p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::95677bf7ba495642d71953d1174a5b25
https://europepmc.org/articles/PMC1918057/
https://europepmc.org/articles/PMC1918057/
Autor:
Hogema, Boris M., Gupta, Maneesh, Senephansiri, Henry, Burlingame, Terry G., Taylor, Melissa, Jakobs, Cornelis, Schutgens, Ruud B. H., Froestl, Wolfgang, Snead, O. Carter, Diaz-Arrastia, Ramon, Bottiglieri, Teodoro, Grompe, Markus, Gibson, K. Michael
Publikováno v:
Nature Genetics; Oct2001, Vol. 29 Issue 2, p212, 5p
Autor:
Mulder, Cees, Scheltens, Philip, Visser, Jelle J., van Kamp, Gerard J., Schutgens, Ruud B. H.
Publikováno v:
Annals of Clinical Biochemistry; Sep2000, Vol. 37 Issue 5, p593-607, 15p, 1 Diagram, 3 Charts
Publikováno v:
Journal of Neuropathology & Experimental Neurology; Sep1995, Vol. 54 Issue 5, p726-739, 14p
Autor:
Topçu, Meral, Erdem, Guliz, Saatçi, Islil, Aktan, Gökhan, Simsek, Ali, Renda, Yavuz, Schutgens, Ruud B. H., Wanders, Ronald J. A., Jacobs, Cornelis
Publikováno v:
Journal of Child Neurology; Sep1996, Vol. 11 Issue 5, p373-377, 5p
Autor:
Barth, Peter G., Hoffmann, Georg F., Jaeken, Jaak, Lehnert, Willy, Hanefeld, Folker, Van Gennip, Albert H., Duran, Marinus, Valk, Jaap, Schutgens, Ruud B. H., Trefz, Friedrich K., Reimann, Gabriele, Hartung, Hans-Peter
Publikováno v:
Annals of Neurology; 1992, Vol. 32 Issue 1, p66-71, 6p
Autor:
Tjoa, May Lee, Vugt, John M. G. van, Mulders, Monique A. M., Schutgens, Ruud B. H., Oudejans, Cees B. M., Wijk, Inge J. van
Publikováno v:
Obstetrics & Gynecology (Ovid); October 2001, Vol. 98 Issue: 4 p600-607, 8p
Autor:
GIBSON, K. MICHAEL, BURLINGAME, TERRY G., HOGEMA, BORIS, JAKOBS, CORNELIS, SCHUTGENS, RUUD B. H., MILLINGTON, DAVID, ROE, CHARLES R., ROE, DIANE S., SWEETMAN, LAWRENCE, STEINER, ROBERT D., LINCK, LEESA, POHOWALLA, PARHAWA, SACKS, MARTINE, KISS, DOREEN, RINALDO, PIERO, VOCKLEY, JERRY
Publikováno v:
Pediatric Research (Ovid); June 2000, Vol. 47 Issue: 6 p830-833, 4p
Autor:
Willems, Patrick J., Vits, Lieve, Wanders, Ronald J. A., Coucke, Paul J., Van der Auwera, Bart J., Van Elsen, August F., Raeymaekers, Peter, Van Broeckhoven, Christine, Schutgens, Ruud B. H., Dacremont, Georges, Leroy, Jules G., Martin, Jean-Jacques, Dumon, Jan E.
Publikováno v:
Archives of Neurology; June 1990, Vol. 47 Issue: 6 p665-669, 5p
Autor:
NAGASAWA, HIROYUKI, YAMAGUCHI, SEIJI, ORII, TADRO, SCHUTGENS, RUUD B. H., SWEETMAN, LAWRENCE, HASHIMOTO, TAKASHI
Publikováno v:
Pediatric Research (Ovid); August 1989, Vol. 26 Issue: 2 p145-149, 5p