Hélène Ogier de Baulny

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Pascale de Lonlay, Isabelle Valnot, Antoni Barrientos et al. · Nature Genetics · 2001 · 313 citations

Liver Failure, Mitophagy, Protein Quality Control +8

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Julie Mollet, Agnès Delahodde, Valérie Serre et al. · The American Journal of Human Genetics · 2008 · 290 citations · Full text

Neurodegenerative Diseases, Molecular Neuroscience, Mendelian Disorder +11

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 242 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

Sebene Mayorandan, Uta Meyer, Gülden Gökçay et al. · Orphanet Journal of Rare Diseases · 2014 · 135 citations · Full text