Pascale de Lonlay
Université Paris Cité(FR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Hyperglycemia and glycemic control in critically ill and hospitalized patients, Amino Acid Enzymes and Metabolism, Pancreatic function and diabetes
Most-Cited Works
- → Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia(1997)988 cited
- → Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature(2012)928 cited
- → Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion(2007)519 cited
- → Neurologic Outcomes of 90 Neonates and Infants With Persistent Hyperinsulinemic Hypoglycemia(2001)347 cited
- → Recognition and management of fatty acid oxidation defects: A series of 107 patients(1999)337 cited
- → A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure(2001)314 cited
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