Thierry de Barsy
UCLouvain(BE)
Publications by Year
Research Areas
Glycogen Storage Diseases and Myoclonus, Metabolism and Genetic Disorders, Carbohydrate Chemistry and Synthesis, Lysosomal Storage Disorders Research, Mitochondrial Function and Pathology
Most-Cited Works
- → Lysosomotropic agents(1974)1,899 cited
- → A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic(1998)122 cited
- → Rodent and Human Acid α‐Glucosidase(1972)81 cited
- → Myopathy and phosphorylase kinase deficiency caused by a mutation in thePHKA1 gene(2005)56 cited
- → The effect of glucose on the conversion of muscle phosphorylase a into b or b′(1972)39 cited
- → Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies(1987)34 cited
- → Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency(1996)31 cited
- → Retarded and Aberrant Splicings Caused by Single Exon Mutation in a Phosphoglycerate Kinase Variant(1996)29 cited
- → MODELLING THE MECHANICAL AND HISTOLOGICAL PROPERTIES OF CARROT TISSUE DURING COOKING IN RELATION TO TEXTURE AND CELL WALL CHANGES(1996)28 cited
- Moyamoya disease and Down syndrome: case report and review of the literature.(2002)