François Feillet

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Harvey L. Levy, Andrzej Milanowski, Anupam Chakrapani et al. · The Lancet · 2007 · 311 citations

Pharmacy, Pharmacotherapy, Clinical Nutrition +6

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Philippa B. Mills, Emma Footitt, Kevin Mills et al. · Brain · 2010 · 266 citations · Full text

Medicine, Neurology, Biochemical Genetics +16

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

Barbara K. Burton, Manisha Balwani, François Feillet et al. · New England Journal of Medicine · 2015 · 244 citations · Full text

Life Sciences, Biochemistry, Enzymology +15

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner et al. · Human Mutation · 2007 · 181 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12