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

Tolérance de l’ivermectine orale chez l’enfant

Autor: A. Chosidow, D. Gendrel

Publikováno v: Archives de Pédiatrie. 23:204-209

Resume L’ivermectine (IVM) est un medicament antiparasitaire, derive des avermectines, produit de fermentation d’un actinomycete, Streptomyces avermitilis. Sa structure est l’association de deux avermectines. L’IVM agit chez les invertebres s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4508a5149070ed0dcc93d0f1317d6777
https://doi.org/10.1016/j.arcped.2015.11.002

Antibiotiques : ne pas scier la branche sur laquelle on est assis

Autor: H. Haas, C. Gras-Le Guen, Robert M. Cohen, J. Raymond, Elise Launay, Emmanuel Grimprel, D. Gendrel

Publikováno v: Archives de Pédiatrie. 20:S49-S54

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::277036c276c56f95634539653392cf14
https://doi.org/10.1016/s0929-693x(13)71406-4

Clinical severity and molecular characteristics of circulating and emerging rotaviruses in young children attending hospital emergency departments in France

Autor: Jérôme Kaplon, Florence Morfin-Sherpa, D. Gendrel, Christopher Payan, A. Schnuriger, Anne Decoster, Sylvie Pillet, J.-F. Meritet, Aurélie Guigon, François Dubos, Bruno Pozzetto, M.-C. Legrand-Guillien, Céline Fremy, C. Bouquignaud, Y. Gillet, M. Rodiere, Didier Hober, Y. Mekki, Ronald Colimon, Pierre Lebon, O. Mory, A. Beby-Defaux, Sophie Alain, Stéphane Bonacorsi, Bruno Lina, Gisèle Lagathu, J.-L. Stephan, M. Chouchane, Pierre Pothier, A. Garbarg-Chenon, L. Mendes-Martins, R. Maudinas, Jérôme Guinard, Frédéric Huet, Patricia Mariani, J. Languepin, A. Minoui-Tran, A. de Rougemont, Mouna Lazrek, Véronique Avettand-Fenoel, Vincent Foulongne, Gérard Agius, Astrid Vabret, Denis Oriot, Serge Aho, Mathie Lorrot

Publikováno v: Clinical Microbiology and Infection
Clinical Microbiology and Infection, Elsevier for the European Society of Clinical Microbiology and Infectious Diseases, 2016, 22 (8), pp.737.e9-737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, 2016, 22 (8), pp.737.e9--737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, Elsevier for the European Society of Clinical Microbiology and Infectious Diseases, 2016, 22 (8), pp.737.e9--737.e15. ⟨10.1016/j.cmi.2016.05.025⟩
Clinical Microbiology and Infection, 2016, 22 (8), pp.737.e9-737.e15. ⟨10.1016/j.cmi.2016.05.025⟩

International audience; Group A rotavirus (RVA) is the leading cause of acute gastroenteritis in young children worldwide. A prospective surveillance network has been set up to investigate the virological and clinical features of RVA infections and t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e66169ec9284c60c0e13c0753254522
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02290969

Paediatric nephrology

Autor: H. Shi, J. Wen, Z. LI, M. Elsayed, K. Kamal, A. El Shal, D. Youssef, C. Caubet, C. Lacroix, B. Benjamin, F. Bandin, J.-L. Bascands, B. Monsarrat, S. Decramer, J. Schanstra, D.-B. Laetitia, T. Ulinski, B. Aoun, K. Ozdemir, N. Dincel, B. Sozeri, S. Mir, A. Berdeli, F. Akyigit, M. Mizerska-Wasiak, M. Panczyk-Tomaszewska, H. Szymanik-Grzelak, M. Roszkowska-Blaim, A. Jamin, L. Dehoux, R. C. Monteiro, G. Deschenes, A. Bouts, J.-C. Davin, E. Dorresteijn, M. Schreuder, M. Lilien, M. Oosterveld, S. Kramer, M. Gruppen, G. Pintos-Morell, U. Ramaswami, R. Parini, M. Rohrbach, G. Kalkum, M. Beck, M. Carter, S. Antwi, J. Callegari, P. Kotanko, N. W. Levin, A. Rumjon, I. C. Macdougall, C. Turner, C. J. Booth, D. Goldsmith, M. D. Sinha, R. Camilla, E. Loiacono, M. E. Donadio, M. Conrieri, M. Bianciotto, F. M. Bosetti, L. Peruzzi, G. Conti, A. Bitto, A. Amore, R. Coppo, J. Maldyk, H.-H. Chou, Y.-Y. Chiou, V. Bochniewska, K. Jobs, A. Jung, M. H. Fallahzadeh Abarghooei, J. Zare, V. Sedighi Goorabi, A. Derakhshan, M. Basiratnia, M. A. Fallahzadeh Abarghooei, G. Hosseini Al-Hashemi, F. Fallahzadeh Abarghooei, A. Kluska-Jozwiak, J. Soltysiak, K. Lipkowska, M. Silska, P. Fichna, B. Skowronska, W. Stankiewicz, D. Ostalska-Nowicka, J. Zachwieja, L. Girisgen, F. Sonmez, C. Yenisey, E. Kis, O. Cseprekal, A. Kerti, A. Szabo, P. Salvi, A. Benetos, T. Tulassay, G. Reusz, I. Makulska, M. Szczepanska, D. Drozdz, D. Zwolnska, E. Tolstova, L. Anis, B. Alber, B. Edouard, C. Gerard, K. Seni, T. Dunia Julienne Hadiza, S. Christian, T. Benoit, B. Francois, L. Adama, A. Rosenberg, J. Munro, K. Murray, B. Wainstein, J. Ziegler, D. Singh-Grewal, C. Boros, N. Adib, E. Elliot, R. Fahy, F. Mackie, G. Kainer, D. Polak-Jonkisz, D. Zwolinska, K. Laszki-Szczachor, A. Janocha, L. Rusiecki, M. Sobieszczanska, F. Garzotto, Z. Ricci, A. Clementi, R. Cena, J. C. Kim, M. Zanella, C. Ronco, L. Purzyc, A. Peco-Antic, J. Kotur-Stevuljevic, D. Paripovic, G. Scekic, G. Milosevski-Lomic, D. Bogicevic, B. Spasojevic-Dimitrijeva, R. Hassan, A. El-Husseini, M. Sobh, M. Ghoneim, J. Harambat, M. Bonthuis, K. J. Van Stralen, G. Ariceta, N. Battelino, T. Jahnukainen, A. R. Sandes, C. Combe, K. J. Jager, E. Verrina, F. Schaefer, R. Espindola, J. Bacchetta, P. Cochat, C. Stefanis, S. Leroy, A. Fernandez-Lopez, R. Nikfar, C. Romanello, F. Bouissou, A. Gervaix, M. Gurgoze, S. Bressan, V. Smolkin, D. Tuerlinkx, C. Stefanidis, G. Vaos, P. Leblond, F. Gungor, D. Gendrel, M. Chalumeau, D. Rawlins, J. M. Simpson, G. Arnaud, M. Anne, T. Stephanie, B. Flavio, F. B. Veronique, D. Stephane, L. Mumford, S. Marks, N. Ahmad, H. Maxwell, J. Tizard, E. Vidal, A. Amigoni, M. Varagnolo, E. Benetti, G. Ghirardo, V. Brugnolaro, L. Murer, G. Christine, A. Degi, A. J. Szabo, G. S. Reusz, A. Vidoni, G. Ramondo, D. Miotto

Publikováno v: Nephrology Dialysis Transplantation. 27:ii537-ii549

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4723881551d09912e3bdc9b89cd1f200
https://doi.org/10.1093/ndt/gfs250