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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M. Paquay S, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778
Neurocognitive profiles in MSUD school-age patients.
Bouchereau J, Leduc-Leballeur J, Pichard S, Imbard A, Benoist JF, Abi Warde MT, Arnoux JB, Barbier V, Brassier A, Broué P, Cano A, Chabrol B, Damon G, Gay C, Guillain I, Habarou F, Lamireau D, Ottolenghi C, Paermentier L, Sabourdy F, Touati G, Ogier de Baulny H, de Lonlay P, Schiff M. Bouchereau J, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 2017 May;40(3):377-383. doi: 10.1007/s10545-017-0033-7. Epub 2017 Mar 21. J Inherit Metab Dis. 2017. PMID: 28324240
Isolated remethylation disorders: do our treatments benefit patients?
Schiff M, Benoist JF, Tilea B, Royer N, Giraudier S, Ogier de Baulny H. Schiff M, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 2011 Feb;34(1):137-45. doi: 10.1007/s10545-010-9120-8. Epub 2010 May 21. J Inherit Metab Dis. 2011. PMID: 20490923 Review.
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
Pennisi A, Maranda B, Benoist JF, Baudouin V, Rigal O, Pichard S, Santer R, Romana Lepri F, Novelli A, Ogier de Baulny H, Dionisi-Vici C, Schiff M. Pennisi A, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 2020 May;43(3):540-548. doi: 10.1002/jimd.12203. Epub 2020 Jan 1. J Inherit Metab Dis. 2020. PMID: 31816104
Transient neonatal renal failure and massive polyuria in MEGDEL syndrome.
Harbulot C, Paquay S, Dorboz I, Pichard S, Bourillon A, Benoist JF, Jardel C, Ogier de Baulny H, Boespflug-Tanguy O, Schiff M. Harbulot C, et al. Among authors: ogier de baulny h. Mol Genet Metab Rep. 2016 Mar 10;7:8-10. doi: 10.1016/j.ymgmr.2016.03.001. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27331002 Free PMC article.
Heterogeneity of follow-up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines.
Schiff M, Broue P, Chabrol B, De Laet C, Habes D, Mention K, Sarles J, Spraul A, Valayannopoulos V, Ogier de Baulny H; French-Belgian study group for HT-1. Schiff M, et al. Among authors: ogier de baulny h, de laet c. J Inherit Metab Dis. 2012 Sep;35(5):823-9. doi: 10.1007/s10545-011-9429-y. Epub 2011 Dec 14. J Inherit Metab Dis. 2012. PMID: 22167277
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data.
Baruteau J, Sachs P, Broué P, Brivet M, Abdoul H, Vianey-Saban C, Ogier de Baulny H. Baruteau J, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 2014 Jan;37(1):137-9. doi: 10.1007/s10545-013-9628-9. Epub 2013 Jun 27. J Inherit Metab Dis. 2014. PMID: 23807318 No abstract available.
Should transcobalamin deficiency be treated aggressively?
Schiff M, Ogier de Baulny H, Bard G, Barlogis V, Hamel C, Moat SJ, Odent S, Shortland G, Touati G, Giraudier S. Schiff M, et al. Among authors: ogier de baulny h. J Inherit Metab Dis. 2010 Jun;33(3):223-9. doi: 10.1007/s10545-010-9074-x. Epub 2010 Mar 30. J Inherit Metab Dis. 2010. PMID: 20352340
65 results