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94 results

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Page 1
Pyruvate carboxylase deficiency: An underestimated cause of lactic acidosis.
Habarou F, Brassier A, Rio M, Chrétien D, Monnot S, Barbier V, Barouki R, Bonnefont JP, Boddaert N, Chadefaux-Vekemans B, Le Moyec L, Bastin J, Ottolenghi C, de Lonlay P. Habarou F, et al. Among authors: brassier a. Mol Genet Metab Rep. 2014 Nov 28;2:25-31. doi: 10.1016/j.ymgmr.2014.11.001. eCollection 2015 Mar. Mol Genet Metab Rep. 2014. PMID: 28649521 Free PMC article.
Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.
Fernández-Eulate G, Martin GC, Dureau P, Speeg-Spatz C, Brassier A, Gillard P, Bremond-Gignac D, Thouvenin D, Pagan C, Lamari F, Nadjar Y. Fernández-Eulate G, et al. Among authors: brassier a. Orphanet J Rare Dis. 2022 Dec 13;17(1):434. doi: 10.1186/s13023-022-02591-4. Orphanet J Rare Dis. 2022. PMID: 36514115 Free PMC article.
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P. Ottolenghi C, et al. Among authors: brassier a. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188
[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: brassier a. 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. Among authors: brassier a. 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: brassier a. 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.
Unusual muscular injury in an infant with severe H1N1 infection.
Guedj R, Desguerre I, Brassier A, Boddaert N, Hubert P, Oualha M. Guedj R, et al. Among authors: brassier a. Pediatr Neurol. 2012 Jul;47(1):51-4. doi: 10.1016/j.pediatrneurol.2012.04.006. Pediatr Neurol. 2012. PMID: 22704018
[Prenatal symptoms and diagnosis of inherited metabolic diseases].
Brassier A, Ottolenghi C, Boddaert N, Sonigo P, Attié-Bitach T, Millischer-Bellaiche AE, Baujat G, Cormier-Daire V, Valayannopoulos V, Seta N, Piraud M, Chadefaux-Vekemans B, Vianey-Saban C, Froissart R, de Lonlay P. Brassier A, et al. Arch Pediatr. 2012 Sep;19(9):959-69. doi: 10.1016/j.arcped.2012.06.002. Epub 2012 Aug 9. Arch Pediatr. 2012. PMID: 22884749 French.
94 results