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.
- 16 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 2019
- 1 Finished
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 1 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
3
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 1 2018, In : Molecular Genetics and Metabolism. 123, 2, p. 97-104 8 p.Research output: Contribution to journal › Article
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 1 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
9
Citations
(Scopus)
Intrathecal enzyme replacement therapy reverses cognitive decline in mucopolysaccharidosis type I
Nestrasil, I., Shapiro, E. G., 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
Mucopolysaccharidosis I
Enzyme Replacement Therapy
Brain
Blood-Brain Barrier
Iduronidase
6
Citations
(Scopus)
Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome
Eisengart, J., Jarnes, J., Ahmed, A., Nestrasil, I., Ziegler, R. S., Delaney, K., Shapiro, E. G. & Whitley, C. B., Dec 1 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