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434 results

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Page 1
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.
Valayannopoulos V, Boddaert N, Mention K, Touati G, Barbier V, Chabli A, Sedel F, Kaplan J, Dufier JL, Seidenwurm D, Rabier D, Saudubray JM, de Lonlay P. Valayannopoulos V, et al. Among authors: saudubray jm. Mol Genet Metab. 2009 Jun;97(2):109-13. doi: 10.1016/j.ymgme.2008.12.010. Epub 2009 Mar 31. Mol Genet Metab. 2009. PMID: 19345633
Neonatal hypoglycaemia: aetiologies.
de Lonlay P, Giurgea I, Touati G, Saudubray JM. de Lonlay P, et al. Among authors: saudubray jm. Semin Neonatol. 2004 Feb;9(1):49-58. doi: 10.1016/j.siny.2003.08.002. Semin Neonatol. 2004. PMID: 15013475 Review.
Respiratory chain defects may present only with hypoglycemia.
Mochel F, Slama A, Touati G, Desguerre I, Giurgea I, Rabier D, Brivet M, Rustin P, Saudubray JM, DeLonlay P. Mochel F, et al. Among authors: saudubray jm. J Clin Endocrinol Metab. 2005 Jun;90(6):3780-5. doi: 10.1210/jc.2005-0009. Epub 2005 Mar 22. J Clin Endocrinol Metab. 2005. PMID: 15784700
Liver transplantation in urea cycle disorders.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9. doi: 10.1007/pl00014323. Eur J Pediatr. 1999. PMID: 10603100
[Hereditary metabolic diseases in adults].
Saudubray JM, Nuoffer JM, de Lonlay P, Castelnau P, Touati G. Saudubray JM, et al. Rev Med Interne. 1998;19 Suppl 3:366S-375S. Rev Med Interne. 1998. PMID: 9885858 Review. French. No abstract available.
434 results