Christine Vianey‐Saban

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, S. E. Olpin, Ben J. H. M. Poorthuis et al. · The American Journal of Human Genetics · 1999 · 300 citations · Full text

Genetic Diseases, Disease Phenotype, Genetic Determinant +10

ESI‐MS/MS analysis of underivatised amino acids: a new tool for the diagnosis of inherited disorders of amino acid metabolism. Fragmentation study of 79 molecules of biological interest in positive and negative ionisation mode

Monique Piraud, Christine Vianey‐Saban, Konstantinos Pétritis et al. · Rapid Communications in Mass Spectrometry · 2003 · 268 citations

Ion‐pairing reversed‐phase liquid chromatography/electrospray ionization mass spectrometric analysis of 76 underivatized amino acids of biological interest: a new tool for the diagnosis of inherited disorders of amino acid metabolism

Monique Piraud, Christine Vianey‐Saban, Konstantinos Pétritis et al. · Rapid Communications in Mass Spectrometry · 2005 · 172 citations

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

Christine Vianey‐Saban, P. Divry, M. Brivet et al. · Clinica Chimica Acta · 1998 · 156 citations

Aldehyde Dehydrogenase, Mitochondrial Function, Biochemistry +8

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Rikke Katrine Jentoft Olsen, Eliška Koňaříková, Teresa Anna Giancaspero et al. · The American Journal of Human Genetics · 2016 · 146 citations · Full text