Marianne Hoogeveen‐Westerveld
Erasmus MC(NL)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus, Tuberous Sclerosis Complex Research, Carbohydrate Chemistry and Synthesis, Trypanosoma species research and implications
Most-Cited Works
- → The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo(2005)290 cited
- → Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.(1988)174 cited
- → The genotype–phenotype correlation in Pompe disease(2012)132 cited
- → Characterization of the human lysosomal α-glucosidase gene(1990)130 cited
- → Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease(2014)106 cited
- → Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex(2011)92 cited
- → Effects of a higher dose of alglucosidase alfa on ventilator‐free survival and motor outcome in classic infantile Pompe disease: an open‐label single‐center study(2016)84 cited
- → Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations(2015)82 cited
- → TORC1‐dependent epilepsy caused by acute biallelic Tsc1 deletion in adult mice(2013)79 cited
- → Functional Assessment ofTSC2 Variants Identified in Individuals with Tuberous Sclerosis Complex(2012)76 cited