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Page 1
Alagille syndrome in adult patients: it is never too late.
Jacquet A, Guiochon-Mantel A, Noël LH, Sqalli T, Bedossa P, Hadchouel M, Grünfeld JP, Fakhouri F. Jacquet A, et al. Am J Kidney Dis. 2007 May;49(5):705-9. doi: 10.1053/j.ajkd.2007.02.262. Am J Kidney Dis. 2007. PMID: 17472854
Prenatal molecular diagnosis of inherited cholestatic diseases.
Jung C, Driancourt C, Baussan C, Zater M, Hadchouel M, Meunier-Rotival M, Guiochon-Mantel A, Jacquemin E. Jung C, et al. J Pediatr Gastroenterol Nutr. 2007 Apr;44(4):453-8. doi: 10.1097/MPG.0b013e318036a569. J Pediatr Gastroenterol Nutr. 2007. PMID: 17414143
Thymidine phosphorylase gene mutations in patients with mitochondrial neurogastrointestinal encephalomyopathy syndrome.
Slama A, Lacroix C, Plante-Bordeneuve V, Lombès A, Conti M, Reimund JM, Auxenfants E, Crenn P, Laforêt P, Joannard A, Seguy D, Pillant H, Joly P, Haut S, Messing B, Said G, Legrand A, Guiochon-Mantel A. Slama A, et al. Mol Genet Metab. 2005 Apr;84(4):326-31. doi: 10.1016/j.ymgme.2004.12.004. Epub 2005 Jan 24. Mol Genet Metab. 2005. PMID: 15781193
[GNRH1 mutation in familial hypogonadotropic hypogonadism].
Bouligand J, Guiochon-Mantel A, Young J. Bouligand J, et al. Med Sci (Paris). 2009 Oct;25(10):791-3. doi: 10.1051/medsci/20092510791. Med Sci (Paris). 2009. PMID: 19849976 Free article. French. No abstract available.
131 results