H. Ogier de Baulny

NTBC treatment in tyrosinaemia type I: Long‐term outcome in French patients

Alice Masurel‐Paulet, Joséphine Poggi-Bach, M. O. Rolland et al. · Journal of Inherited Metabolic Disease · 2008 · 216 citations

Medicine, Hematology, Immunology +2

Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture

Guy Touati, Vassili Valayannopoulos, Karine Mention et al. · Journal of Inherited Metabolic Disease · 2006 · 114 citations · Full text

Life Sciences, Biochemistry, Nutrition +13

Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

Apolline Imbard, Audrey Boutron, Christiane Vequaud et al. · Molecular Genetics and Metabolism · 2011 · 93 citations

Life Sciences, Biochemistry, Molecular Biology +11

Progression despite replacement of a myopathic form of coenzyme Q ₁₀ defect

Karine Auré, Jean François Benoist, H. Ogier de Baulny et al. · Neurology · 2004 · 80 citations

Life Sciences, Neurology, Pharmacotherapy +12

Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency

Audrey Boutron, Cécile Acquaviva, Christine Vianey‐Saban et al. · Molecular Genetics and Metabolism · 2011 · 50 citations

Life Sciences, Genetics, Molecular Biology +14