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1971 2
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Page 1
A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.
Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaëc N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK. Ganapathi M, et al. Among authors: garenne a. J Inherit Metab Dis. 2022 Sep;45(5):996-1012. doi: 10.1002/jimd.12526. Epub 2022 Jul 11. J Inherit Metab Dis. 2022. PMID: 35621276 Free PMC article.
Predictors of the Outcome at 2 Years in Neonates With Congenital Cytomegalovirus Infection.
Fourgeaud J, Magny JF, Couderc S, Garcia P, Maillotte AM, Benard M, Pinquier D, Minodier P, Astruc D, Patural H, Parat S, Guillois B, Garenne A, Guilleminot T, Parodi M, Bussières L, Ghout I, Ville Y, Leruez-Ville M. Fourgeaud J, et al. Among authors: garenne a. Pediatrics. 2024 Apr 1;153(4):e2023063531. doi: 10.1542/peds.2023-063531. Pediatrics. 2024. PMID: 38487823
Impact of rotavirus vaccine on premature infants.
Roué JM, Nowak E, Le Gal G, Lemaitre T, Oger E, Poulhazan E, Giroux JD, Garenne A, Gagneur A. Roué JM, et al. Among authors: garenne a. Clin Vaccine Immunol. 2014 Oct;21(10):1404-9. doi: 10.1128/CVI.00265-14. Epub 2014 Jul 30. Clin Vaccine Immunol. 2014. PMID: 25080553 Free PMC article.
Severe and refractory anaphylaxis in pediatric intensive care unit.
Pouessel G, Trochu C, Chagnon F, Diesnis R, Leteurtre S, Deschildre A; French Group for Paediatric Intensive Care and Emergencies (FGPICE). Pouessel G, et al. Allergy. 2023 Aug;78(8):2315-2318. doi: 10.1111/all.15712. Epub 2023 Mar 25. Allergy. 2023. PMID: 36929486 No abstract available.
Clinical Value of Serial Quantitative Analysis of Cytomegalovirus DNA in Blood and Saliva Over the First 24 Months of Life in Congenital Infection: The French Cymepedia Cohort.
Fourgeaud J, Magny JF, Couderc S, Garcia P, Maillotte AM, Benard M, Pinquier D, Minodier P, Astruc D, Patural H, Ugolin M, Parat S, Guillois B, Garenne A, Guilleminot T, Parodi M, Bussières L, Ville Y, Leruez-Ville M. Fourgeaud J, et al. Among authors: garenne a. J Pediatr. 2023 Feb;253:197-204.e5. doi: 10.1016/j.jpeds.2022.09.040. Epub 2022 Sep 28. J Pediatr. 2023. PMID: 36181870 Free article.
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