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Page 1
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: labarthe f. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. 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
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
[Clinical variability and diagnosis steps in childhood mitochondrial disease].
Mercier S, Josselin de Wasch M, Labarthe F, Jardel C, Lombès A, Munnich A, Toutain A, Nivet H, Saliba E, Chantepie A, Castelnau P. Mercier S, et al. Among authors: labarthe f. Arch Pediatr. 2009 Apr;16(4):322-30. doi: 10.1016/j.arcped.2008.12.024. Epub 2009 Feb 23. Arch Pediatr. 2009. PMID: 19233626 French.
Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet.
Cano A, Resseguier N, Ouattara A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Chabrol B, Auquier P. Cano A, et al. Among authors: labarthe f. J Pediatr. 2020 May;220:184-192.e6. doi: 10.1016/j.jpeds.2020.01.059. Epub 2020 Mar 4. J Pediatr. 2020. PMID: 32145964
Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.
Ouattara A, Resseguier N, Cano A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Auquier P, Chabrol B. Ouattara A, et al. Among authors: labarthe f. J Pediatr. 2022 Mar;242:192-200.e3. doi: 10.1016/j.jpeds.2021.11.021. Epub 2021 Nov 14. J Pediatr. 2022. PMID: 34788681
Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities-the TENALYS study, a patient perspective survey.
Genevaz D, Arnoux A, Marcel C, Brassier A, Pichard S, Feillet F, Labarthe F, Chabrol B, Berger M, Lapointe AS, Frigout Y, Héron B, Chatellier G, Belmatoug N. Genevaz D, et al. Among authors: labarthe f. Orphanet J Rare Dis. 2022 Feb 21;17(1):68. doi: 10.1186/s13023-022-02232-w. Orphanet J Rare Dis. 2022. PMID: 35189927 Free PMC article.
Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.
Ouattara A, Resseguier N, Cano A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A, Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M, Damaj L, Lamireau D, Berbis J, Auquier P, Chabrol B. Ouattara A, et al. Among authors: labarthe f. J Pediatr. 2023 Mar;254:39-47.e4. doi: 10.1016/j.jpeds.2022.08.060. Epub 2022 Oct 17. J Pediatr. 2023. PMID: 36265570
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
102 results