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Long-term liver disease in methylmalonic and propionic acidemias.
Imbard A, Garcia Segarra N, Tardieu M, Broué P, Bouchereau J, Pichard S, de Baulny HO, Slama A, Mussini C, Touati G, Danjoux M, Gaignard P, Vogel H, Labarthe F, Schiff M, Benoist JF. Imbard A, et al. Among authors: labarthe f. Mol Genet Metab. 2018 Apr;123(4):433-440. doi: 10.1016/j.ymgme.2018.01.009. Epub 2018 Feb 7. Mol Genet Metab. 2018. PMID: 29433791
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency.
Boutron A, Acquaviva C, Vianey-Saban C, de Lonlay P, de Baulny HO, Guffon N, Dobbelaere D, Feillet F, Labarthe F, Lamireau D, Cano A, de Villemeur TB, Munnich A, Saudubray JM, Rabier D, Rigal O, Brivet M. Boutron A, et al. Among authors: labarthe f. Mol Genet Metab. 2011 Aug;103(4):341-8. doi: 10.1016/j.ymgme.2011.04.006. Epub 2011 Apr 19. Mol Genet Metab. 2011. PMID: 21549624
Cardiolipin content is involved in liver mitochondrial energy wasting associated with cancer-induced cachexia without the involvement of adenine nucleotide translocase.
Julienne CM, Tardieu M, Chevalier S, Pinault M, Bougnoux P, Labarthe F, Couet C, Servais S, Dumas JF. Julienne CM, et al. Among authors: labarthe f. Biochim Biophys Acta. 2014 May;1842(5):726-33. doi: 10.1016/j.bbadis.2014.02.003. Epub 2014 Feb 15. Biochim Biophys Acta. 2014. PMID: 24534708 Free article.
[Diagnosis and course to follow for metabolic acidosis].
Tardieu M, Labarthe F. Tardieu M, et al. Among authors: labarthe f. Arch Pediatr. 2015 May;22(5 Suppl 1):52-3. doi: 10.1016/S0929-693X(15)30027-0. Arch Pediatr. 2015. PMID: 26112518 French. No abstract available.
[How to screen for metabolic diseases?].
Labarthe F, Tardieu M, Cheillan D. Labarthe F, et al. Arch Pediatr. 2015 May;22(5 Suppl 1):77-8. doi: 10.1016/S0929-693X(15)30040-3. Arch Pediatr. 2015. PMID: 26112531 French. No abstract available.
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. Among authors: labarthe f. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778
102 results