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Genetic disorders of cellular trafficking.
García-Cazorla A, Oyarzábal A, Saudubray JM, Martinelli D, Dionisi-Vici C. García-Cazorla A, et al. Among authors: saudubray jm. Trends Genet. 2022 Jul;38(7):724-751. doi: 10.1016/j.tig.2022.02.012. Epub 2022 Mar 31. Trends Genet. 2022. PMID: 35367088 Free article. Review.
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk.
Brivet M, Garcia-Cazorla A, Lyonnet S, Dumez Y, Nassogne MC, Slama A, Boutron A, Touati G, Legrand A, Saudubray JM. Brivet M, et al. Among authors: saudubray jm. Mol Genet Metab. 2003 Mar;78(3):186-92. doi: 10.1016/s1096-7192(03)00016-7. Mol Genet Metab. 2003. PMID: 12649063
Hyperinsulinism and hyperammonemia syndrome: report of twelve unrelated patients.
De Lonlay P, Benelli C, Fouque F, Ganguly A, Aral B, Dionisi-Vici C, Touati G, Heinrichs C, Rabier D, Kamoun P, Robert JJ, Stanley C, Saudubray JM. De Lonlay P, et al. Among authors: saudubray jm. Pediatr Res. 2001 Sep;50(3):353-7. doi: 10.1203/00006450-200109000-00010. Pediatr Res. 2001. PMID: 11518822
Clinical features of 52 neonates with hyperinsulinism.
de Lonlay-Debeney P, Poggi-Travert F, Fournet JC, Sempoux C, Dionisi Vici C, Brunelle F, Touati G, Rahier J, Junien C, Nihoul-Fékété C, Robert JJ, Saudubray JM. de Lonlay-Debeney P, et al. Among authors: saudubray jm. N Engl J Med. 1999 Apr 15;340(15):1169-75. doi: 10.1056/NEJM199904153401505. N Engl J Med. 1999. PMID: 10202168 Free article.
434 results