Zobrazeno 1 - 10
of 262
pro vyhledávání: '"F Sedel"'
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
L'Encéphale. 42:208-213
Resume Cet article presente une etude retrospective dont l’objectif est de rechercher, au sein d’une cohorte de patients atteints de la forme adulte de la maladie Niemann-Pick de type C (NPC) et par le moyen de questionnaires, l’existence de tr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab342bd139265aaf02780d6e4a30917e
https://doi.org/10.1016/j.encep.2015.11.003
https://doi.org/10.1016/j.encep.2015.11.003
Autor:
F. Sedel
Publikováno v:
Revue Neurologique. 169:S63-S69
Inborn errors of metabolism (IEM) are caused by mutations in genes coding for enzymes and other proteins involved in cell metabolism. Many IEM can be treated effectively. Although IEM have usually been considered pediatric diseases, they can present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df8a4d6f999653e72d89713aeef2d830
https://doi.org/10.1016/s0035-3787(13)70062-6
https://doi.org/10.1016/s0035-3787(13)70062-6
Autor:
F. Sedel
Publikováno v:
Réanimation. 21:572-582
Les maladies hereditaires du metabolisme (MHM) sont dues a des mutations de genes codant pour des enzymes ou des proteines du metabolisme. De nombreuses maladies metaboliques repondent a des traitements specifiques, d’ou l’importance d’en faire
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5aca730537399ca0e7369f3de045f823
https://doi.org/10.1007/s13546-012-0516-3
https://doi.org/10.1007/s13546-012-0516-3
Autor:
F. Sedel
Publikováno v:
Archives de Pédiatrie. 17:S50-S53
The adult form of Niemann-Pick type C disease displays specific phenotypic, biochemical and genetic features that differentiate it from the infantile and juvenile ones. This form is often linked to the variant biochemical phenotype with mild abnormal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f208dbabd8bd7f9b5b4ec635dd4db87b
https://doi.org/10.1016/s0929-693x(10)70012-9
https://doi.org/10.1016/s0929-693x(10)70012-9
Autor:
C Caillaud, S. Alamowitch, F. Sedel, P. Lavallée, M.-P. Chauveheid, Raphael Szalat, N. Baumann, R. Froissart, L. Benoist, S. Doan, Karim Sacre, I. Klein, Thomas Papo, E. Roullet, F. Vuillemet, Jean-François Alexandra, O. Lidove, Yves Samson
Publikováno v:
International Journal of Clinical Practice. 63:1663-1667
BACKGROUND: Fabry disease (OMIM 301 500) is an X-linked lysosomal storage disease. Neurological symptoms in Fabry disease mainly include stroke, acroparesthesia, cranial nerve palsies and autonomic dysfunction. We report on aseptic meningitis in Fabr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab6afb0c70e392cc5b53325909c684d1
https://doi.org/10.1111/j.1742-1241.2009.02115.x
https://doi.org/10.1111/j.1742-1241.2009.02115.x
Autor:
J M Saudubray, F Sedel
Publikováno v:
Annales d'Endocrinologie. 70:14-24
We present a simplified classification of treatable inborn errors of metabolism (IEM) in three groups with a special focus on those disorders observed at adult age. Group 1 includes inborn errors (IE) of intermediary metabolism which give rise to an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0e6d59c7c996906a560b94b0c9dd4ffe
https://doi.org/10.1016/j.ando.2008.12.004
https://doi.org/10.1016/j.ando.2008.12.004
Autor:
F. Sedel
Publikováno v:
EMC - Neurologie. 4:1-13
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ddcd63ef413416512eb95cd09c81a74b
https://doi.org/10.1016/s0246-0378(07)32525-6
https://doi.org/10.1016/s0246-0378(07)32525-6
Autor:
F. Sedel
Publikováno v:
EMC - Neurologia. 7:1-12
II termine «leucodistrofie» indica, nella pratica clinica, diverse affezioni genetiche il cui punto comune e un danno della mielina del sistema nervoso centrale. I progressi delle tecniche diagnostiche, sia in radiologia, in biochimica o in genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::04367de010de6c3409ba639db0e3cd0a
https://doi.org/10.1016/s1634-7072(07)70551-2
https://doi.org/10.1016/s1634-7072(07)70551-2
Publikováno v:
Europe PubMed Central
Intensive Care Medicine Experimental
Intensive Care Medicine Experimental
Hepatic encephalopathy (HE) is a neurological complication of cirrhosis, impairing survival and quality of life. Its incidence is growing because of the improved prognosis of other complications of cirrhosis, and of the widespread use of TIPS. Howeve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eff4961e300784f4f3511503e1726b0
https://doi.org/10.1186/2197-425x-3-s1-a690
https://doi.org/10.1186/2197-425x-3-s1-a690