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Page 1
Hydroxychloroquine sulfate: A novel treatment for lipin-1 deficiency?
Renard P, Caccavelli L, Legendre A, Tuchmann-Durand C, Balakirouchenane D, Blanchet B, Narjoz C, Straube M, Hubas A, Garros A, Mention K, Bednarek N, Goudin N, Broissand C, Schlatter J, Cisternino S, Cagnard N, van Endert P, Diana J, de Calbiac H, de Lonlay P. Renard P, et al. Among authors: broissand c. Biomed Pharmacother. 2023 Jul;163:114813. doi: 10.1016/j.biopha.2023.114813. Epub 2023 May 5. Biomed Pharmacother. 2023. PMID: 37150031 Free article.
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.
Demaret T, Lacaille F, Wicker C, Arnoux JB, Bouchereau J, Belloche C, Gitiaux C, Grevent D, Broissand C, Adjaoud D, Abi Warde MT, Plantaz D, Bekri S, de Lonlay P, Brassier A. Demaret T, et al. Among authors: broissand c. Orphanet J Rare Dis. 2021 Dec 14;16(1):507. doi: 10.1186/s13023-021-02134-3. Orphanet J Rare Dis. 2021. PMID: 34906190 Free PMC article.
Intravenous administration of a branched-chain amino-acid-free solution in children and adults with acute decompensation of maple syrup urine disease: a prospective multicentre observational study.
Alili JM, Berleur MP, Husson MC, Mention K, Schiff M, Arnoux JB, Brassier A, Guemman AS, Grisel C, Dubois S, Abi-Wardé MT, Broissand C, Servais A, Dao M, de Lonlay P. Alili JM, et al. Among authors: broissand c. Orphanet J Rare Dis. 2022 May 16;17(1):202. doi: 10.1186/s13023-022-02353-2. Orphanet J Rare Dis. 2022. PMID: 35578286 Free PMC article.
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: broissand c. Pediatr Res. 2011 Dec;70(6):638-41. doi: 10.1203/PDR.0b013e318232154f. Pediatr Res. 2011. PMID: 21857385
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: broissand c. 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.
PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.
Ladraa S, Zerbib L, Bayard C, Fraissenon A, Venot Q, Morin G, Garneau AP, Isnard P, Chapelle C, Hoguin C, Fraitag S, Duong JP, Guibaud L, Besançon A, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Goudin N, Dussiot M, Nemazanyy I, Viel T, Autret G, Cruciani-Guglielmacci C, Denom J, Bruneau J, Tavitian B, Legendre C, Dairou J, Lacorte JM, Levy P, Pende M, Polak M, Canaud G. Ladraa S, et al. Among authors: broissand c. Sci Adv. 2022 Dec 9;8(49):eade7823. doi: 10.1126/sciadv.ade7823. Epub 2022 Dec 9. Sci Adv. 2022. PMID: 36490341 Free PMC article.
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.
Bayard C, Segna E, Taverne M, Fraissenon A, Hennocq Q, Periou B, Zerbib L, Ladraa S, Chapelle C, Hoguin C, Kaltenbach S, Villarese P, Asnafi V, Broissand C, Nemazanyy I, Autret G, Goudin N, Legendre C, Authier FJ, Viel T, Tavitian B, Gitiaux C, Fraitag S, Duong JP, Delcros C, Sergent B, Picard A, Dussiot M, Guibaud L, Khonsari R, Canaud G. Bayard C, et al. Among authors: broissand c. J Exp Med. 2023 Nov 6;220(11):e20230926. doi: 10.1084/jem.20230926. Epub 2023 Sep 15. J Exp Med. 2023. PMID: 37712948 Free PMC article.
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.
Servais A, Arnoux JB, Lamy C, Hummel A, Vittoz N, Katerinis I, Bazzaoui V, Dubois S, Broissand C, Husson MC, Berleur MP, Rabier D, Ottolenghi C, Valayannopoulos V, de Lonlay P. Servais A, et al. Among authors: broissand c. J Inherit Metab Dis. 2013 Nov;36(6):939-44. doi: 10.1007/s10545-012-9570-2. Epub 2012 Dec 19. J Inherit Metab Dis. 2013. PMID: 23250513 Clinical Trial.
23 results