Karine Mention

Glycogen storage disease type IX: High variability in clinical phenotype

Nicholas Beauchamp, Ann Dalton, Uma Ramaswami et al. · Molecular Genetics and Metabolism · 2007 · 123 citations

Genome-wide Association Study, Medicine, Genetics +13

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 · 113 citations · Full text

Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease

Vassili Valayannopoulos, Nanda M. Verhoeven, Karine Mention et al. · The Journal of Pediatrics · 2006 · 84 citations

Urology, Inherited Metabolic Disease, Fetal Medicine +6

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry

Martina Huemer, Daria Diodato, Diego Martinelli et al. · Journal of Inherited Metabolic Disease · 2019 · 73 citations · Full text

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner, Bianca Peters, Matias Wagner et al. · Genetics in Medicine · 2019 · 68 citations · Full text

Medicine, Genotype–phenotype Correlations, Genetic Epidemiology +10