Zobrazeno 1 - 10
of 632
pro vyhledávání: '"Jean-Marie Saudubray"'
Autor:
Nicholas F. Brown, Rashmi S. Mullur, Indhu Subramanian, Victoria Esser, Michael J. Bennett, Jean-Marie Saudubray, Annette S. Feigenbaum, Joyce A. Kobari, Patrick M. Macleod, J. Denis McGarry, Jonathan C. Cohen
Publikováno v:
Journal of Lipid Research, Vol 42, Iss 7, Pp 1134-1142 (2001)
Carnitine palmitoyltransferase I (CPT I) catalyzes the formation of acylcarnitine, the first step in the oxidation of long-chain fatty acids in mitochondria. The enzyme exists as liver (L-CPT I) and muscle (M-CPT I) isoforms that are encoded by separ
Externí odkaz:
https://doaj.org/article/1d2c755c25534931a694a222a0537062
Publikováno v:
Inborn Metabolic Diseases ISBN: 9783662631225
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b57e92a6b63c5f1febc72b6de8eb8a0
https://doi.org/10.1007/978-3-662-63123-2_1
https://doi.org/10.1007/978-3-662-63123-2_1
Publikováno v:
Inborn Metabolic Diseases ISBN: 9783662631225
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bec27360d6ae8f9cac1c45ec0a89dbf4
https://doi.org/10.1007/978-3-662-63123-2_44
https://doi.org/10.1007/978-3-662-63123-2_44
Autor:
Angeles García-Cazorla, Alfonso Oyarzábal, Jean-Marie Saudubray, Diego Martinelli, Carlo Dionisi-Vici
Publikováno v:
Trends in genetics : TIG. 38(7)
Cellular trafficking is essential to maintain critical biological functions. Mutations in 346 genes, most of them described in the last 5 years, are associated with disorders of cellular trafficking. Whereas initially restricted to membrane trafficki
Autor:
Ferreira C. R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group: Jose Abdenur, Houda Ali, Rafael Artuch, Andrea Ballabio, Bruce Barshop, Matthias Baumgartner, Enrico Silvio Bertini, Nenad Blau, Valerio Carelli, Christopher Carroll, Patrick F Chinnery, John Christodoulou, Veronica Cornejo, Niklas Darin, Terry Derks, Daria Diodato, Carlo Dionisi-Vici, John A Duley, Toshi Fukao, Ángeles García-Cazorla, Roberto Giugliani, Amy Goldstein, Georg Hoffmann, Rita Horvath, Isabel Ibarra, Anita Inwood, Jaak Jaeken, Cecilia Jimenez-Mallebrera, Amel Karaa, Thomas Klopstock, Stefan Kölker, Cornelia Kornblum, Viktor Kožich, Costanza Lamperti, Nils-Göran Larsson, Aida Lemes, Barry Lewis, Michelangelo Mancuso, Robert McFarland, Fanny Mochel, Julio Montoya, Eva Morava, Karin Naess, Torayuki Okuyama, Annie Olry, Veronique Paquis-Flucklinger, Sumit Parikh, Marc Patterson, Ceila Pérez de Ferrán, Verena Peters, Holger Prokisch, Ann Saada, Gajja S Salomons, Jean-Marie Saudubray, Maurizio Scarpa, Ulrike Schara-Schmidt, Manuel Schiff, Serenella Servidei, Jan Smeitink, Anu Suomalainen, Trine Tangeraas, Robert W Taylor, Ines Thiele, David Thorburn, Johan Van Hove, Ans T Van der Ploeg, Clara Van Karnebeek, Gepke Visser, Jerry Vockley, Ronald Wanders, Dianne Webster, Anna Wedell, Veronica Wiley, Anna Wredenberg, Massimo Zeviani
Publikováno v:
J Inherit Metab Dis
Several initiatives at establishing a classification of inherited metabolic disorders have been published previously, some focusing on pathomechanisms, others on clinical manifestations, while yet another attempted a simplified approach of a comprehe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::930ae4ce9c4dcc3aea4f4c92bbfda714
http://hdl.handle.net/11588/854605
http://hdl.handle.net/11588/854605
Publikováno v:
Journal of Inherited Metabolic Disease
It has become increasingly evident that inborn errors of metabolism (IEMs) are particularly prevalent as diseases of the nervous system and that a broader, more inclusive definition of IEM is necessary. In fact, as long as biochemistry is involved, a
Publikováno v:
Pediatric Clinics of North America. 65:179-208
The specialty of inherited metabolic disease is at the forefront of progress in medicine, with new methods in metabolomics and genomics identifying the molecular basis for a growing number of conditions and syndromes. This review presents an updated
This 7th edition is a milestone in the series of Inborn Metabolic Diseases (IMD), recognised as the standard textbook for professionals involved in the diagnosis and management of IMD.Within the last 5 years a Copernican revolution in our understandi
Publikováno v:
Pediatric clinics of North America. 65(2)
The specialty of inherited metabolic disease is at the forefront of progress in medicine, with new methods in metabolomics and genomics identifying the molecular basis for a growing number of conditions and syndromes. This review presents an updated
Autor:
Jean-Marie Saudubray, Fanny Mochel
Publikováno v:
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, Springer Verlag, 2018, 41 (5), pp.753-756. ⟨10.1007/s10545-018-0209-9⟩
Journal of Inherited Metabolic Disease, 2018, 41 (5), pp.753-756. ⟨10.1007/s10545-018-0209-9⟩
Journal of Inherited Metabolic Disease, Springer Verlag, 2018, 41 (5), pp.753-756. ⟨10.1007/s10545-018-0209-9⟩
Journal of Inherited Metabolic Disease, 2018, 41 (5), pp.753-756. ⟨10.1007/s10545-018-0209-9⟩
International audience; Until recently, inborn errors of metabolism (IEM) were considered a pediatric specialty, as emphasized by the term "inborn," and the concept of adult onset IEM has only very recently reached the adult medical community. Still,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3be1b1df6d3d890bbb5f5e6ac159e2c7
https://hal.sorbonne-universite.fr/hal-01957855/document
https://hal.sorbonne-universite.fr/hal-01957855/document