Karine Mention
Centre Hospitalier Universitaire de Lille(FR)Hôpital Jeanne de Flandre(FR)Institut Alfred Fournier(FR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Genomics and Rare Diseases, Trauma, Hemostasis, Coagulopathy, Resuscitation, Folate and B Vitamins Research, Diet and metabolism studies
Most-Cited Works
- → Glycogen storage disease type IX: High variability in clinical phenotype(2007)123 cited
- → Methylmalonic and propionic acidurias: Management without or with a few supplements of specific amino acid mixture(2006)113 cited
- → Transaldolase deficiency: A new cause of hydrops fetalis and neonatal multi-organ disease(2006)85 cited
- → Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry(2019)75 cited
- → Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients(2019)69 cited
- → Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients(2008)67 cited