Zobrazeno 1 - 10
of 26
pro vyhledávání: '"S. Fournier-Favre"'
Autor:
François Rivier, S. Fournier-Favre, Pierre Meyer, Claire Jeandel, S. Legras, Eric Jeziorski, Nicolas Leboucq, Abdelhamid Slama, Agathe Roubertie, O. Maillet, Pauline Gaignard, A. Benureau, Maryline Carneiro
Publikováno v:
Archives de Pédiatrie
Archives de Pédiatrie, Elsevier, 2014, 21 (12), pp.1370-1374. ⟨10.1016/j.arcped.2014.08.006⟩
Archives de Pédiatrie, Elsevier, 2014, 21 (12), pp.1370-1374. ⟨10.1016/j.arcped.2014.08.006⟩
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal-recessive syndrome, resulting from mutations in the TYMP gene, located at 22q13. The mutation induces a thymidine phosphorylase (TP) deficit, which leads to a nucl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ea74721e2f39fe8578538a7872b5d1a
https://doi.org/10.1016/j.arcped.2014.08.006
https://doi.org/10.1016/j.arcped.2014.08.006
Autor:
Magalie Barth, S. Fournier-Favre, Sandrine Roche, M. A. Spitz, P. de Lonlay, Bénédicte Héron, Mathieu Milh, H. Testard, Sylvia Napuri, Christine Vianey-Saban, L. Lion-François, Laurence Christa, C. Corne, Agathe Roubertie, M. A. Nguyen
Publikováno v:
JIMD Reports ISBN: 9783662541180
Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd7bc958c10252489e05d0be66826e91
https://doi.org/10.1007/8904_2016_550
https://doi.org/10.1007/8904_2016_550
Autor:
A, Benureau, P, Meyer, O, Maillet, N, Leboucq, S, Legras, E, Jeziorski, S, Fournier-Favre, C, Jeandel, P, Gaignard, A, Slama, F, Rivier, A, Roubertie, M, Carneiro
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 21(12)
Mitochondrial neurogastrointestinal encephalopathy disease (MNGIE) is a rare autosomal-recessive syndrome, resulting from mutations in the TYMP gene, located at 22q13. The mutation induces a thymidine phosphorylase (TP) deficit, which leads to a nucl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::de13c9f69a997941ce66ca2d6a5dba69
https://pubmed.ncbi.nlm.nih.gov/25282463
https://pubmed.ncbi.nlm.nih.gov/25282463
Autor:
S. Guillaumont, G. Guyon, K. an Haack, I. Souksi, Gilles Cambonie, S. Fournier-Favre, M. Badr
Publikováno v:
Archives de Pédiatrie. 7:633-636
Resume L'intoxication digitalique reste un accident redoute, bien que l'issue en ait ete notablement amelioree depuis l'emploi de l'immunotherapie par anticorps antidigoxine. Observation Un nouveau-ne atteint d'une communication interventriculaire av
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba26510c2ca2a908d9b0f7ecd809366d
https://doi.org/10.1016/s0929-693x(00)80131-1
https://doi.org/10.1016/s0929-693x(00)80131-1
Autor:
J. Astruc, Gilles Cambonie, F. Luc, N. Sarran, N. Leboucq, S. Fournier-Favre, A-F. Bongrand, G. Slim, P. Lassus, D. Rieu, F. Montoya
Publikováno v:
Archives de Pédiatrie. 6:275-278
Resume L'infection a Mycoplasma pneumoniae peut se compliquer de manifestations neurologiques graves, telle une meningoencephalite Observation. Un garcon de 9 ans trisomique 21 a presente, au decours d'une infection ORL, une meningoencephalite se tra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95d2b636f068edb6d58c70be258cbf9f
https://doi.org/10.1016/s0929-693x(99)80264-4
https://doi.org/10.1016/s0929-693x(99)80264-4
Publikováno v:
Archives de Pédiatrie. 22:217-218
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb44e85223ac21c098df4966a53e02ac
https://doi.org/10.1016/s0929-693x(15)30132-9
https://doi.org/10.1016/s0929-693x(15)30132-9
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 7(6)
Despite the great progress which has been made in the treatment of acute digitalis intoxication by digoxin-immune Fab, it still remains a severe complication of cardiotonic therapy.A neonate with ventricular septal defect and large left-to-right shun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::460e614adcfdfbed924f650c04f52d8f
https://pubmed.ncbi.nlm.nih.gov/10911530
https://pubmed.ncbi.nlm.nih.gov/10911530
Autor:
M. Saguintaah, M.C. Picot, R. Chiron, F. Counil, M. Voisin, S. Flunker, S. Fournier-Favre, L. Rivard
Publikováno v:
Paediatric Respiratory Reviews. 7:S304-S305
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ec7d8a3746d5dfce1c6fab4c4634f3b5
https://doi.org/10.1016/j.prrv.2006.04.087
https://doi.org/10.1016/j.prrv.2006.04.087
Publikováno v:
Paediatric Respiratory Reviews. 7:S313-S314
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6e8b603ebb7ce3a3dcc5900516b55faf
https://doi.org/10.1016/j.prrv.2006.04.106
https://doi.org/10.1016/j.prrv.2006.04.106
Autor:
Fathi Moussa, P. de Lonlay, Aline Cano, J.F. Benoist, Magalie Barth, L. Lion-François, Agathe Roubertie, N. Garcia, Alice Kuster, Nadia Bahi-Buisson, Brigitte Chabrol, S. Fournier-Favre, Isabelle Desguerre, Lena Damaj, Christine Vianey-Saban, Mathieu Milh, Sandrine Roche, François Rivier, D. Gras, C. Corne, Emmanuel Roze, Sylvia Napuri, Laurence Christa, Bénédicte Héron, H. Testard, L. de Pontual, Chris Ottolenghi, M. A. Spitz, M. A. Nguyen, Hélène Ogier
Publikováno v:
Archives de Pédiatrie. 20:426
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2da26e7813b8ebefd5d8c5852328e1f4
https://doi.org/10.1016/j.arcped.2013.01.037
https://doi.org/10.1016/j.arcped.2013.01.037