Projects per year
Personal profile
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.
- 17 Similar Profiles
Mucopolysaccharidosis I
Medicine & Life Sciences
Mucopolysaccharidosis III
Medicine & Life Sciences
Mucopolysaccharidosis II
Medicine & Life Sciences
Enzyme Replacement Therapy
Medicine & Life Sciences
Iduronidase
Medicine & Life Sciences
Phenotype
Medicine & Life Sciences
Mucopolysaccharidoses
Medicine & Life Sciences
Magnetic resonance imaging
Chemical Compounds
Network
Recent external collaboration on country level. Dive into details by clicking on the dots.
Projects 2018 2024
Lysosomal Disease Network
Whitley, C. B., Ahmed, A., Braunlin, E. A., Cortez, D., Eisengart, J., King, K. E., Nestrasil, I. & Orchard, P. J.
NIH NAT INST OF NEURO DISORDERS & STROKE
9/15/19 → 7/31/24
Project: Research project
Clinical signs and biomarkers in the early natural history of attenuated MPS I
9/1/18 → 1/15/19
Project: Research project
Biomarkers
Research Output 2013 2019
A longitudinal study of neurocognition and behavior in patients with Hurler-Scheie syndrome heterozygous for the L238Q mutation
Ahmed, A., Ou, L., Rudser, K., Shapiro, E., Eisengart, J., King, K. E., Chen, A., Dickson, P. & Whitley, C. B., Sep 2019, In : Molecular Genetics and Metabolism Reports. 20, 100484.Research output: Contribution to journal › Article
Open Access
Mucopolysaccharidosis I
Longitudinal Studies
Iduronidase
Mutation
Computational Biology
5
Citations
(Scopus)
Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study
Nestrasil, I., Ahmed, A., Utz, J. M., Rudser, K., Whitley, C. B. & Jarnes-Utz, J. R., Feb 2018, In : Molecular Genetics and Metabolism. 123, 2, p. 97-104 8 p.Research output: Contribution to journal › Article
Open Access
Gangliosidoses
Brain Diseases
Magnetic resonance imaging
Brain
GM2 Gangliosidosis
Observing the advanced disease course in mucopolysaccharidosis, type IIIA; a case series
Shapiro, E. G., Ahmed, A., Whitley, C. B. & Delaney, K., Feb 2018, In : Molecular Genetics and Metabolism. 123, 2, p. 123-126 4 p.Research output: Contribution to journal › Article
Mucopolysaccharidosis III
Telephone
Surgery
Interviews
Motor Skills
11
Citations
(Scopus)
Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I
Nestrasil, I., Shapiro, E., Svatkova, A., Dickson, P., Chen, A., Wakumoto, A., Ahmed, A., Stehel, E., McNeil, S., Gravance, C. & Maher, E., Mar 1 2017, In : American Journal of Medical Genetics, Part A. 173, 3, p. 780-783 4 p.Research output: Contribution to journal › Article
Open Access
Mucopolysaccharidosis I
Enzyme Replacement Therapy
Brain
Blood-Brain Barrier
Iduronidase
7
Citations
(Scopus)
Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome
Eisengart, J. B., Jarnes, J., Ahmed, A., Nestrasil, I., Ziegler, R., Delaney, K., Shapiro, E. & Whitley, C., Dec 2017, In : Molecular Genetics and Metabolism Reports. 13, p. 64-68 5 p.Research output: Contribution to journal › Article
Open Access
Mucopolysaccharidosis I
Enzyme Replacement Therapy
Cell Transplantation
Central Nervous System Diseases
Bilateral Hearing Loss