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Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening.
Hajji H, Imbard A, Spraul A, Taibi L, Barbier V, Habes D, Brassier A, Arnoux JB, Bouchereau J, Pichard S, Sissaoui S, Lacaille F, Girard M, Debray D, de Lonlay P, Schiff M. Hajji H, et al. Among authors: arnoux jb. Mol Genet Metab Rep. 2022 Nov 8;33:100933. doi: 10.1016/j.ymgmr.2022.100933. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36393896 Free PMC article.
Congenital hyperinsulinism.
Arnoux JB, de Lonlay P, Ribeiro MJ, Hussain K, Blankenstein O, Mohnike K, Valayannopoulos V, Robert JJ, Rahier J, Sempoux C, Bellanné C, Verkarre V, Aigrain Y, Jaubert F, Brunelle F, Nihoul-Fékété C. Arnoux JB, et al. Early Hum Dev. 2010 May;86(5):287-94. doi: 10.1016/j.earlhumdev.2010.05.003. Epub 2010 Jun 13. Early Hum Dev. 2010. PMID: 20550977 Review.
KATP channel mutations in congenital hyperinsulinism.
Saint-Martin C, Arnoux JB, de Lonlay P, Bellanné-Chantelot C. Saint-Martin C, et al. Among authors: arnoux jb. Semin Pediatr Surg. 2011 Feb;20(1):18-22. doi: 10.1053/j.sempedsurg.2010.10.012. Semin Pediatr Surg. 2011. PMID: 21185999 Review.
Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet.
Valayannopoulos V, Bajolle F, Arnoux JB, Dubois S, Sannier N, Baussan C, Petit F, Labrune P, Rabier D, Ottolenghi C, Vassault A, Broissand C, Bonnet D, de Lonlay P. Valayannopoulos V, et al. Among authors: arnoux jb. Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f. Pediatr Res. 2011. PMID: 21857385
[Enzyme replacement therapy for lysosomal storage disorders].
Valayannopoulos V, Brassier A, Chabli A, Caillaud C, Lemoine M, Odent T, Arnoux JB, de Lonlay P. Valayannopoulos V, et al. Among authors: arnoux jb. Arch Pediatr. 2011 Oct;18(10):1119-23. doi: 10.1016/j.arcped.2011.07.002. Epub 2011 Aug 27. Arch Pediatr. 2011. PMID: 21873040 Review. French.
Congenital hyperinsulinism: current trends in diagnosis and therapy.
Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayannopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y, Bellanné-Chantelot C, de Lonlay P. Arnoux JB, et al. Orphanet J Rare Dis. 2011 Oct 3;6:63. doi: 10.1186/1750-1172-6-63. Orphanet J Rare Dis. 2011. PMID: 21967988 Free PMC article. Review.
Successful treatment of congenital hyperinsulinism with long-acting release octreotide.
Le Quan Sang KH, Arnoux JB, Mamoune A, Saint-Martin C, Bellanné-Chantelot C, Valayannopoulos V, Brassier A, Kayirangwa H, Barbier V, Broissand C, Fabreguettes JR, Charron B, Thalabard JC, de Lonlay P. Le Quan Sang KH, et al. Among authors: arnoux jb. Eur J Endocrinol. 2012 Feb;166(2):333-9. doi: 10.1530/EJE-11-0874. Epub 2011 Nov 2. Eur J Endocrinol. 2012. PMID: 22048969 Clinical Trial.
Fatal rhabdomyolysis in 2 children with LPIN1 mutations.
Bergounioux J, Brassier A, Rambaud C, Bustarret O, Michot C, Hubert L, Arnoux JB, Laquerriere A, Bekri S, Galene-Gromez S, Bonnet D, Hubert P, de Lonlay P. Bergounioux J, et al. Among authors: arnoux jb. J Pediatr. 2012 Jun;160(6):1052-4. doi: 10.1016/j.jpeds.2012.02.033. Epub 2012 Apr 4. J Pediatr. 2012. PMID: 22480698
95 results