Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Patrick A. Aubourg"'
Autor:
Marc Engelen, Mathieu Barbier, Inge M. E. Dijkstra, Remmelt Schür, Rob M. A. de Bie, Camiel Verhamme, Marcel G. W. Dijkgraaf, Patrick A. Aubourg, Ronald J. A. Wanders, Bjorn M. van Geel, Marianne de Visser, Bwee T. Poll–The, Stephan Kemp
Publikováno v:
Brain, 137(Part 3), 693-706. Oxford University Press
X-linked adrenoleukodystrophy is the most common peroxisomal disorder. The disease is caused by mutations in the ABCD1 gene that encodes the peroxisomal transporter of very long-chain fatty acids. A defect in the ABCD1 protein results in elevated lev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e06f47c685d483dc8a7bac1ee887bfb1
https://doi.org/10.1093/brain/awt361
https://doi.org/10.1093/brain/awt361
Autor:
Marc Engelen, Mathieu Barbier, Inge M. E. Dijkstra, Remmelt Schür, Rob M. de Bie, Camiel Verhamme, Marcel G. W. Dijkgraaf, Patrick A. Aubourg, Ronald J. A. Wanders, Bjorn M. van Geel, Marianne de Visser, Bwee T. Poll–The, Stephan Kemp
Publikováno v:
Brain, 138(2). Oxford University Press
Sir, We thank Horn et al. (2014) for their comments. The paper they refer to was published …
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bd5eedf7d44b2336eba0f54f824457e
https://doi.org/10.1093/brain/awu233
https://doi.org/10.1093/brain/awu233
Autor:
Robert Carlton, Marie R. Kalinowski, Patrick F. Aubourg, Patrick N. Breysse, Janise Woodson, Carol Rice, Rick Versen, Mark J. Komoroski, Peter S.J. Lees
Publikováno v:
Applied Occupational and Environmental Hygiene. 5:619-622
The NIOSH Analytical Method 7400 for airborne fibers specifies the use of electrically conductive cowls for air sampling. Data collected from a number of laboratories indicate that a significant fraction of collected dust may be deposited on the insi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c5d6a35e799084a772a12ec8a702f26f
https://doi.org/10.1080/1047322x.1990.10389706
https://doi.org/10.1080/1047322x.1990.10389706
Autor:
Elsa Shapiro, S Abel, Lawrence A. Lockman, Daniel J. Loes, Patrick R. Aubourg, Lawrence R. Charnas, Kathryn E. Dusenbery, Norma K.C. Ramsay, Paul J. Orchard, William Krivit, Shunichi Kato, Ye Tan, Charles Peters, Hugo W. Moser, Anne I. Goldman, Richard S. Ziegler, Todd E. DeFor, Satkiran S. Grewal
Publikováno v:
Blood. 104(3)
Cerebral X-linked adrenoleukodystrophy (X-ALD) is a disorder of very-long-chain fatty acid metabolism, adrenal insufficiency, and cerebral demyelination. Death occurs within 2 to 5 years of clinical onset without hematopoietic cell transplantation (H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ecee05366e5ce60587d247ea6d8078d
https://pubmed.ncbi.nlm.nih.gov/15073029
https://pubmed.ncbi.nlm.nih.gov/15073029
Publikováno v:
Annals of Neurology. 21:349-352
Les etudes de la liaison genetique entre l'adrenoleucodystrophie liee au chromosome X et un fragment clone d'ADN (St 14) qui detecte les polymorphismes a l'extremite distale du bras long du chromosome X (αq27-28) n'ont pas revele de recombinaison da
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afed236e120af4470c568c18c0d01f18
https://doi.org/10.1002/ana.410210406
https://doi.org/10.1002/ana.410210406