Zobrazeno 1 - 10
of 223
pro vyhledávání: '"R. Garnotel"'
Autor:
F. Catros, Wladimir Mauhin, Francis Gaches, Martin Michaud, R. Garnotel, O. Lidove, Nadia Belmatoug, N. Bedreddine
Publikováno v:
La Revue de Médecine Interne. 42:110-119
Fabry disease is the second most frequent lysosomal storage disorder. It is a X-linked genetic disease secondary to alpha-galactosidase A enzyme deficiency. This is a progressive and systemic disease that affects both males and females. Classical sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::71aa3bbeded08ee86fbe4cc156305ba7
https://doi.org/10.1016/j.revmed.2020.08.019
https://doi.org/10.1016/j.revmed.2020.08.019
Autor:
M, Michaud, W, Mauhin, N, Belmatoug, N, Bedreddine, R, Garnotel, F, Catros, O, Lidove, F, Gaches
Publikováno v:
La Revue de medecine interne. 42(2)
Fabry disease is the second most frequent lysosomal storage disorder. It is a X-linked genetic disease secondary to alpha-galactosidase A enzyme deficiency. This is a progressive and systemic disease that affects both males and females. Classical sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::744ac102ccacc2f4ba37e515dfb93af7
https://pubmed.ncbi.nlm.nih.gov/33172708
https://pubmed.ncbi.nlm.nih.gov/33172708
Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Publikováno v:
Clinica Chimica Acta. 493:S600
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::45e186e16a2eee615819bc6dfe3e13a5
https://doi.org/10.1016/j.cca.2019.03.1258
https://doi.org/10.1016/j.cca.2019.03.1258
Autor:
Amélie Servettaz, C. Douillard, Jean-Baptiste Arnoux, Aude Servais, S. Charrière, F. Mochel, S. Toquet, François Maillot, Christian Lavigne, I. Redonnet-Vernhet, R. Garnotel, Esther Noel
Publikováno v:
La Revue de Médecine Interne. 38:A64-A65
Introduction Les deficits du cycle de l’uree (UCD) sont des pathologies touchant principalement les nouveau-nes, caracterisees par un deficit portant sur une des six enzymes ou un des transporteurs impliques dans le cycle. Ce cycle garantissant l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::280322e7f4bbee30ebf32eafef69e549
https://doi.org/10.1016/j.revmed.2017.10.346
https://doi.org/10.1016/j.revmed.2017.10.346
Autor:
Anne Vassault, Gilbert Briand, François Labarthe, François Feillet, P. de Lonlay, Christine Vianey-Saban, C Aquaviva, Brigitte Chabrol, Dries Dobbelaere, R Garnotel, Julien Baruteau, E Jeannesson, et sous l’égide de la Sfeim, David Cheillan, Vassili Valayanopoulos, Hélène Ogier
Publikováno v:
Archives de Pédiatrie. 19:184-193
MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As the High Authority for Health has recently proposed including MCAD deficiency in the panel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::097cf681934cfa00cd607b0c8a585d26
https://doi.org/10.1016/j.arcped.2011.10.025
https://doi.org/10.1016/j.arcped.2011.10.025
Publikováno v:
La Revue de Médecine Légale. 2:4-11
Resume Des analyses biochimiques post-mortem peuvent etre utiles pour la recherche de la cause de la mort. L’acidocetose est une complication frequente et parfois mortelle du diabete, avec d’eventuelles implications medicolegales. But de l’etud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ac5f47683b3fea1db54a8eb97c398777
https://doi.org/10.1016/j.medleg.2011.02.001
https://doi.org/10.1016/j.medleg.2011.02.001
Autor:
V., Untereiner, Sockalingum, Ganesh, R., Garnotel, C., Gobinet, F., Ramaholimihaso, F., Ehrhard, M.D., Diebold, G., Thiefin
Publikováno v:
Journal of Biophotonics
Journal of Biophotonics, Wiley, 2014, 7 (3-4), pp.241-253
Journal of Biophotonics, Wiley, 2014, 7 (3-4), pp.241-253
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6ff432647a6cb5b4580811126fec51fc
https://hal.archives-ouvertes.fr/hal-00976565
https://hal.archives-ouvertes.fr/hal-00976565
Autor:
F, Feillet, H, Ogier, D, Cheillan, C, Aquaviva, F, Labarthe, J, Baruteau, B, Chabrol, P, de Lonlay, V, Valayanopoulos, R, Garnotel, D, Dobbelaere, G, Briand, E, Jeannesson, A, Vassault, C, Vianey-Saban
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 19(2)
MCAD deficiency is the most common fatty acid oxidation disorder, with the prevalence varying from 1/10,000 to 1/27,000 in the countries adjacent to France. As the High Authority for Health has recently proposed including MCAD deficiency in the panel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a62cf50cb2ab3dee949bd4f19adef500
https://pubmed.ncbi.nlm.nih.gov/22244319
https://pubmed.ncbi.nlm.nih.gov/22244319