Targeting neurological abnormalities in lysosomal storage diseasesRaquel van Gool, Jaymin Upadhyay, Anthony Tucker-Bartley et al.|Trends in Pharmacological Sciences|2021Cited by 13
Characterization of central manifestations in patients with Niemann-Pick disease type CRaquel van Gool, Jaymin Upadhyay, Fan Zhang et al.|Genetics in Medicine|2023Cited by 12
Levacetylleucine (N-acetyl-l-leucine) for Niemann-Pick disease type CRaquel van Gool, Jaymin Upadhyay, Walla Al‐Hertani et al.|Trends in Pharmacological Sciences|2025Cited by 9
P116: Noninvasive markers of central and musculoskeletal symptoms in infantile- and late-onset Pompe disease*Raquel van Gool, Jaymin Upadhyay, Amanda Cao et al.|Genetics in Medicine Open|2026Cited by 0
Evaluation of electrical impedance myography as a noninvasive musculoskeletal biomarker in infantile- and late-onset Pompe diseaseRaquel van Gool, Jaymin Upadhyay, Nehal Shah et al.|Genetics in Medicine|2026Cited by 0