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Page 1
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: rabier d. 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
Clinical approach to inherited peroxisomal disorders: a series of 27 patients.
Baumgartner MR, Poll-The BT, Verhoeven NM, Jakobs C, Espeel M, Roels F, Rabier D, Levade T, Rolland MO, Martinez M, Wanders RJ, Saudubray JM. Baumgartner MR, et al. Among authors: rabier d. Ann Neurol. 1998 Nov;44(5):720-30. doi: 10.1002/ana.410440505. Ann Neurol. 1998. PMID: 9818927
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: rabier d. 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
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. Saudubray JM, et al. Among authors: rabier d. J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. J Inherit Metab Dis. 1999. PMID: 10407781 Review.
195 results