A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred.

Autor: S Ries, C Aslanidis, P Fehringer, J C Carel, D Gendrel, G Schmitz

Publikováno v: Journal of Lipid Research, Vol 37, Iss 8, Pp 1761-1765 (1996)

Cholesteryl ester storage disease (CESD) and Wolman disease (WD) are both autosomal recessive disorders associated with reduced activity and genetic defects of lysosomal acid lipase (LAL). The strikingly more severe course of WD is caused by genetic

Externí odkaz: https://doaj.org/article/8eb11e93cb3143dfb7efcb324e749b73

X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

Autor: Elodie Fiot, Delphine Zénaty, Priscilla Boizeau, Jérémie Haignere, Sophie Dos Santos, Juliane Léger, J C Carel, S Cabrol, P Chanson, S Christin-Maitre, C Courtillot, B Donadille, J Dulon, M Houang, M Nedelcu, I Netchine, M Polak, S Salenave, D Samara-Boustani, D Simon, P Touraine, M Viaud, H Bony, K Braun, R Desailloud, A M Bertrand, B Mignot, F Schillo, P Barat, V Kerlan, C Metz, E Sonnet, Y Reznik, V Ribault, H Carla, I Tauveron, C Bensignor, F Huet, B Verges, O Chabre, C Dupuis, A Spiteri, M Cartigny, C Stuckens, J Weill, A Lienhardt, C Naud-Saudreau, F Borson-Chazot, A Brac de la Perriere, M Pugeat, T Brue, R Reynaud, G Simonin, F Paris, C Sultan, B Leheup, G Weryha, S Baron, B Charbonnel, S Dubourdieu, E Baechler, P Fenichel, K Wagner, F Compain, H Crosnier, C Personnier, B Delemer, A C Hecart, P F Souchon, M De Kerdanet, F Galland, S Nivot-Adamiak, M Castanet, C Lecointre, O Richard, N Jeandidier, S Soskin, P Lecomte, M Pepin-Donat, P Pierre

Publikováno v: European Journal of Endocrinology
European Journal of Endocrinology, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩
European Journal of Endocrinology, BioScientifica, 2019, 180 (6), pp.397-406. ⟨10.1530/EJE-18-0878⟩

ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90141f9c76344ac051168fc9f8ff886a
https://doi.org/10.1530/eje-18-0878

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Effet des inhibiteurs sélectifs de recapture de la sérotonine (ISRS) sur la croissance osseuse : une revue de la littérature

Autor: D. Purper Ouakil, H. Kerbage, S. Bahadori, J. Léger, J.-C. Carel

Publikováno v: L'Encéphale. 40:56-61

Resume Les inhibiteurs selectifs de recapture de la serotonine (ISRS) ont deja ete associes chez les adultes a des effets secondaires osseux, mais leur impact sur la croissance osseuse a ete tres peu etudie chez les enfants, malgre des resultats d’

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fad94de3aa0c4e6fd8db5b91dd8b48af
https://doi.org/10.1016/j.encep.2013.04.007

De Amsterdam Wrist Rules: Een klinische beslisregel voor polstrauma op de SEH

Autor: Walenkamp, Monique M. J., Bentohami, Abdelali, Slaar, Annelie, Beerekamp, M. S. H. Suzan, Maas, Mario, Jager, L. C. Cara, Sosef, Nico L., van Velde, Romuald, Ultee, Jan M., Steyerberg, Ewout W., Goslings, J. C. Carel, Schep, Niels W. L.

Publikováno v: Nederlands tijdschrift voor geneeskunde, 160. Bohn Stafleu van Loghum

Although only 39% of patients with wrist trauma have sustained a fracture, the majority of patients is routinely referred for radiography. The purpose of this study was to derive and externally validate a clinical decision rule that selects patients

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::835ef0418360a5b3b110dd0df9c48f16
https://pure.amc.nl/en/publications/de-amsterdam-wrist-rules-een-klinische-beslisregel-voor-polstrauma-op-de-seh(ea72dd01-ac95-461b-8d4e-58b1bcd6562c).html