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Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A, Sudrié-Arnaud B, Dabaj I, Torre S, Domitille L, Snanoudj S, Heron B, Levade T, Caillaud C, Vergnaud S, Saugier-Veber P, Coutant S, Dranguet H, Froissart R, Al Khouri M, Alembik Y, Baruteau J, Arnoux JB, Brassier A, Brehin AC, Busa T, Cano A, Chabrol B, Coubes C, Desguerre I, Doco-Fenzy M, Drenou B, Elcioglu NH, Elsayed S, Fouilhoux A, Poirsier C, Goldenberg A, Jouvencel P, Kuster A, Labarthe F, Lazaro L, Pichard S, Rivera S, Roche S, Roggerone S, Roubertie A, Sigaudy S, Spodenkiewicz M, Tardieu M, Vanhulle C, Marret S, Bekri S. Tebani A, et al. Among authors: baruteau j. J Med Genet. 2022 Apr;59(4):377-384. doi: 10.1136/jmedgenet-2020-107510. Epub 2021 Mar 18. J Med Genet. 2022. PMID: 33737400
Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C.
Héron B, Valayannopoulos V, Baruteau J, Chabrol B, Ogier H, Latour P, Dobbelaere D, Eyer D, Labarthe F, Maurey H, Cuisset JM, de Villemeur TB, Sedel F, Vanier MT. Héron B, et al. Among authors: baruteau j. Orphanet J Rare Dis. 2012 Jun 7;7:36. doi: 10.1186/1750-1172-7-36. Orphanet J Rare Dis. 2012. PMID: 22676771 Free PMC article. Clinical Trial.
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Seker Yilmaz B, et al. Among authors: baruteau j. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management].
Feillet F, Ogier H, Cheillan D, Aquaviva C, Labarthe F, Baruteau J, Chabrol B, de Lonlay P, Valayanopoulos V, Garnotel R, Dobbelaere D, Briand G, Jeannesson E, Vassault A, Vianey-Saban C; SFEIM (Société française pour l’étude des erreurs innées du métabolisme). Feillet F, et al. Among authors: baruteau j. Arch Pediatr. 2012 Feb;19(2):184-93. doi: 10.1016/j.arcped.2011.10.025. Epub 2012 Jan 12. Arch Pediatr. 2012. PMID: 22244319 French.
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.
Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A. Valayannopoulos V, et al. Among authors: baruteau j. Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2. Orphanet J Rare Dis. 2016. PMID: 27030250 Free PMC article. Clinical Trial.
Novel therapies for mucopolysaccharidosis type III.
Seker Yilmaz B, Davison J, Jones SA, Baruteau J. Seker Yilmaz B, et al. Among authors: baruteau j. J Inherit Metab Dis. 2021 Jan;44(1):129-147. doi: 10.1002/jimd.12316. Epub 2020 Sep 28. J Inherit Metab Dis. 2021. PMID: 32944950 Free PMC article. Review.
76 results