Publications

van Gool, R., Far, A., Drenthen, G. S., Jansen, J. F. A., Goijen, C. P., Backes, W. H., Linden, D. E. J., Merkies, I. S. J., Faber, C. G., Upadhyay, J., & Hoeijmakers, J. G. J. (2023) Peripheral pain captured centrally: altered brain morphology on MRI in small fiber neuropathy patients with and without an SCN9A gene variant. Journal of Pain.

Cao, A., van Gool, R., Golden, E., Goodlett, B., Camelo, C., Bujoreanu, S., Al-Hertani, W., & Upadhyay, J. (2023). Case report: Chronic pain in a pediatric patient with late-onset pompe disease. Frontiers in pain research (Lausanne, Switzerland), 4, 1244609. https://doi.org/10.3389/fpain.2023.1244609

Golden, E., van Gool, R., Cay, M., Goodlett, B., Cao, A., Al-Hertani, W., & Upadhyay, J. (2023). The experience of living with Niemann-Pick type C: a patient and caregiver perspective. Orphanet journal of rare diseases, 18(1), 120. https://doi.org/10.1186/s13023-023-02741-2

Tucker-Bartley, A., Selen, D.J., Golden, E., van Gool, R., Ebb, D., Mannstadt, M., Upadhyay, J. (2023) Pharmacological Interventions Targeting Pain in Fibrous Dysplasia/McCune–Albright Syndrome. International Journal of Molecular Sciences.

van Gool, R., Tucker-Bartley, A., Yang, E., Todd, N., Guenther, F., Goodlett, B., Al-Hertani, W., Bodamer, O.A., Upadhyay, J. (2022). Targeting Neurological Abnormalities in Lysosomal Storage Diseases. Trends in Pharmacological Sciences.

Webinar
Acid Maltase Deficiency Association

In this presentation, Raquel provides a short description of neurological signs and symptoms that have been reported in patients with Infantile- or Late-Onset Pompe Disease (IOPD/LOPD). She describes a comprehensive approach toward understanding the neurobiological abnormalities in IOPD/LOPD. Finally, Raquel shares preliminary findings from ongoing studies involving patients with IOPD/LOPD and that are taking place at Boston Children’s Hospital.