Area of research
Physiology · Rheumatology
Research interest
Research interests include Amniotic fluid, Biology, Medicine, Ceramide, Muscle atrophy, and PI3K/AKT/mTOR pathway.
Brain MRI features and scoring of leukodystrophy in adult-onset Krabbe disease
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses
Antenatal manifestations of inborn errors of metabolism: biological diagnosis
A Thermolabile Aldolase A Mutant Causes Fever-Induced Recurrent Rhabdomyolysis without Hemolytic Anemia
TNF-α- and tumor-induced skeletal muscle atrophy involves sphingolipid metabolism
Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice