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Page 1
[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.
Antenatal manifestations of inborn errors of metabolism: biological diagnosis.
Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R. Vianey-Saban C, et al. J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. J Inherit Metab Dis. 2016. PMID: 27393412 Review.
[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. 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.
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles.
Pontoizeau C, Habarou F, Brassier A, Veauville-Merllié A, Grisel C, Arnoux JB, Vianey-Saban C, Barouki R, Chadefaux-Vekemans B, Acquaviva C, de Lonlay P, Ottolenghi C. Pontoizeau C, et al. JIMD Rep. 2016;27:39-45. doi: 10.1007/8904_2015_481. Epub 2015 Sep 27. JIMD Rep. 2016. PMID: 26409463 Free PMC article.
Glucose-6-phosphatase deficiency.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-Buron A, Eberschweiler PT, Gajdos V, Labrune P. Froissart R, et al. Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Orphanet J Rare Dis. 2011. PMID: 21599942 Free PMC article. Review.
142 results