Projects per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
Education/Academic qualification
MBBS
Fingerprint
The Fingerprint is created by mining the titles and abstracts of the person's research outputs and projects/funding awards to create an index of weighted terms from discipline-specific thesauri.
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Assessment of cervical spinal pathology in patients with MPS I, II and VI
Labounek, R. (PI), Ahmed, A. (CoI), Lenglet, C. (CoI), Nestrasil, I. (CoI), Bondy, M. (Other Role), Chekouo Tekougang, T. (Other Role) & Labounkova, I. (Other Role)
NIH NAT INST OF NEURO DISORDERS & STROKE
7/1/24 → 6/30/26
Project: Research project
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Lysosomal Disease Network
Whitley, C. B. (PI), Ahmed, A. (CoI), Braunlin, E. A. (CoI), Cortez, D. (CoI), Eisengart, J. (CoI), King, K. E. (CoI), Nestrasil, I. (CoI) & Orchard, P. J. (CoI)
NIH NAT INST OF NEURO DISORDERS & STROKE
9/15/19 → 7/31/25
Project: Research project
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Clinical signs and biomarkers in the early natural history of attenuated MPS I
Eisengart, J. (PI) & Ahmed, A. (CoI)
9/1/18 → 10/31/24
Project: Research project
Research output
- 22 Article
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Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot study
Jarnes, J. R., Pillai, N. R., Ahmed, A., Shrestha, S., Stark, M. & Whitley, C. B., Mar 2025, In: Molecular Genetics and Metabolism Reports. 42, 101179.Research output: Contribution to journal › Article › peer-review
Open Access -
Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase program
Shrestha, S., Zagel, A. L., Pillai, N. R., Ahmed, A., Jacobson, J., Ranasinghe, A., Whitley, C. B. & Jarnes, J. R., Jun 2025, In: Genetics in Medicine. 27, 6, 101405.Research output: Contribution to journal › Article › peer-review
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Phenotypic variability and the gender paradox in the R363C variant of Fabry disease
Leslie, A. C., Jarnes, J., Ahmed, A., Shrestha, S., Wang, J., Whitley, C. B. & Pillai, N. R., Jan 2025, In: JIMD Reports. 66, 1, e12466.Research output: Contribution to journal › Article › peer-review
Open Access -
Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late-onset Tay-Sachs disease
Májovská, J., Nestrašil, I., Ahmed, A., Bondy, M. T., Klempíř, J., Jahnová, H., Schneider, S. A., Horáková, D., Krásenský, J., Ješina, P., Vaneckova, M., Nascene, D. R., Whitley, C. B., Jarnes, J. R., Magner, M. & Dušek, P., Mar 2024, In: Journal of Inherited Metabolic Disease. 47, 2, p. 327-339 13 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
Pillai, N. R., Fabie, N. A. V., Kaye, T. V., Rosendahl, S. D., Ahmed, A., Hietala, A. D., Jorgenson, A. B., Lanpher, B. C. & Whitley, C. B., Sep 1 2023, In: Molecular Genetics and Metabolism. 140, 1-2, 107633.Research output: Contribution to journal › Article › peer-review
2 Scopus citations