Zobrazeno 1 - 10
of 495
pro vyhledávání: '"Vianey-Saban C"'
Autor:
Bertholet-Thomas, A., Servais, A., Liang, H., Acquaviva, C., Vianey-Saban, C., Deschênes, G., Cochat, P., Labbé, A., Bacchetta, J., Lemoine, S.
Publikováno v:
In EMC – Pediatría June 2018 53(3):1-12
Autor:
Béhin, A., Acquaviva-Bourdain, C., Souvannanorath, S., Streichenberger, N., Attarian, S., Bassez, G., Brivet, M., Fouilhoux, A., Labarre-Villa, A., Laquerrière, A., Pérard, L., Kaminsky, P., Pouget, J., Rigal, O., Vanhulle, C., Eymard, B., Vianey-Saban, C., Laforêt, P.
Publikováno v:
In Revue Neurologique March 2016 172(3):231-241
Autor:
Brassier, A., Ottolenghi, C., Boddaert, N., Sonigo, P., Attié-Bitach, T., Millischer-Bellaiche, A.-E., Baujat, G., Cormier-Daire, V., Valayannopoulos, V., Seta, N., Piraud, M., Chadefaux-Vekemans, B., Vianey-Saban, C., Froissart, R., de Lonlay, P.
Publikováno v:
In Archives de pédiatrie September 2012 19(9):959-969
Autor:
Curie, A., Touil, N., Gaillard, S., Galanaud, D., Leboucq, N., Deschênes, G., Morin, D., Abad, F., Luauté, J., Bodenan, E., Roche, L., Acquaviva, C., Vianey-Saban, C., Cochat, P., Cotton, F., Bertholet-Thomas, A.
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-22 (2020)
Orphanet journal of rare diseases
Orphanet journal of rare diseases, 2020, 15 (1), pp.59. ⟨10.1186/s13023-019-1271-6⟩
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases
Orphanet journal of rare diseases, 2020, 15 (1), pp.59. ⟨10.1186/s13023-019-1271-6⟩
Orphanet Journal of Rare Diseases
Background Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Other sympt
Autor:
Maillart, E., Acquaviva-Bourdain, C., Rigal, O., Brivet, M., Jardel, C., Lombès, A., Eymard, B., Vianey-Saban, C., Laforêt, P.
Publikováno v:
In Revue Neurologique 2010 166(3):289-294
Publikováno v:
In Revue Neurologique 2005 161(3):284-289
Autor:
Kaphan, E., Bou Ali, H., Gastaldi, M., Acquaviva, C., Vianey-Saban, C., Rouzier, C., Fragaki, K., Bannwarth, S., Paquis-Flucklinger, V., Romero, N., Behin, A., Lombès, A., Jardel, C., Rigal, O., Laforêt, P.
Publikováno v:
In Revue Neurologique December 2018 174(10):731-735
Publikováno v:
In Archives de pédiatrie June 2012 19(6) Supplement 1:H154-H155
Publikováno v:
In Forensic Science International 15 December 2001 124(1):22-24
Autor:
Sala, P Ruiz, Ruijter, G, Acquaviva, C, Chabli, A, de Sain-van der Velden, M G M, Garcia-Villoria, J, Heiner-Fokkema, M R, Jeannesson-Thivisol, E, Leckstrom, K, Franzson, L, Lynes, G, Olesen, J, Onkenhout, W, Petrou, P, Drousiotou, A, Ribes, A, Vianey-Saban, C, Merinero, B, Morava, Eva, Baumgartner, Matthias, Patterson, Marc, Rahman, Shamima, Zschocke, Johannes, Peters, Verena
Publikováno v:
JIMD Rep
JIMD Rep, 2016, 30, pp.23-31. ⟨10.1007/8904_2016_533⟩
JIMD Reports, 30, 23. Springer Berlin
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
JIMD Reports
JIMD Reports-JIMD Reports, Volume 30
Journal of Inherited Metabolic Disease, 39(3), 437-445. Springer Netherlands
JIMD Reports ISBN: 9783662536803
Europe PubMed Central
JIMD Reports, 23-31
STARTPAGE=23;ENDPAGE=31;TITLE=JIMD Reports
JIMD Rep, 2016, 30, pp.23-31. ⟨10.1007/8904_2016_533⟩
JIMD Reports, 30, 23. Springer Berlin
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
JIMD Reports
JIMD Reports-JIMD Reports, Volume 30
Journal of Inherited Metabolic Disease, 39(3), 437-445. Springer Netherlands
JIMD Reports ISBN: 9783662536803
Europe PubMed Central
JIMD Reports, 23-31
STARTPAGE=23;ENDPAGE=31;TITLE=JIMD Reports
International audience; The analysis of acylcarnitines (AC) in plasma/serum is established as a useful test for the biochemical diagnosis and the monitoring of treatment of organic acidurias and fatty acid oxidation defects. External quality assuranc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646920aece4495efe628b819ca2afc6d
https://hal.archives-ouvertes.fr/hal-01850349
https://hal.archives-ouvertes.fr/hal-01850349