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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.

  • 20 Similar Profiles
Mucopolysaccharidosis I Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences
Mucopolysaccharidosis II Medicine & Life Sciences
Iduronidase Medicine & Life Sciences
Mucopolysaccharidosis III Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Mucopolysaccharidosis VI Medicine & Life Sciences
Iduronate Sulfatase Medicine & Life Sciences

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Projects 1995 2027

Research Output 1977 2019

Attention and corpus callosum volumes in individuals with mucopolysaccharidosis type I

King, K. E., Rudser, K., Nestrasil, I., Kovac, V., Delaney, K. A., Wozniak, J. R., Mueller, B. A., Lim, K. O., Eisengart, J., Mamak, E. G., Raiman, J., Ali, N., Cagle, S., Harmatz, P., Whitley, C. B. & Shapiro, E. G., May 14 2019, In : Neurology. 92, 20, p. e2321-e2328

Research output: Contribution to journalArticle

Mucopolysaccharidosis I
Corpus Callosum
Cell Transplantation
Research

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B

Przybilla, M. J., Ou, L., Tăbăran, A. F., Jiang, X., Sidhu, R., Kell, P. J., Ory, D. S., O'Sullivan, G. & Whitley, C. B., Feb 1 2019, In : Molecular Genetics and Metabolism. 126, 2, p. 139-150 12 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis IV
GM1 Gangliosidosis
Enzyme activity
Galactosidases
Clustered Regularly Interspaced Short Palindromic Repeats

Final results of the phase 1/2, open-label clinical study of intravenous recombinant human N-acetyl-α-D-glucosaminidase (SBC-103) in children with mucopolysaccharidosis IIIB

Whitley, C. B., Vijay, S., Yao, B., Pineda, M., Parker, G. J. M., Rojas-Caro, S., Zhang, X., Dai, Y., Cinar, A., Bubb, G., Patki, K. C. & Escolar, M. L., Feb 1 2019, In : Molecular Genetics and Metabolism. 126, 2, p. 131-138 8 p.

Research output: Contribution to journalArticle

Mucopolysaccharidoses
Hexosaminidases
Heparitin Sulfate
Cerebrospinal fluid
4 alpha-glucanotransferase

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E. G., Bhargava, P., Kerr, D. & Alexanderian, D., Feb 1 2019, In : Molecular Genetics and Metabolism. 126, 2, p. 121-130 10 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis III
Heparitin Sulfate
Glycosaminoglycans
Cerebrospinal fluid
Pharmacokinetics
1 Citation (Scopus)

Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease

Ou, L., Przybilla, M. J. & Whitley, C. B., Feb 1 2019, In : Molecular Genetics and Metabolism. 126, 2, p. 151-156 6 p.

Research output: Contribution to journalArticle

Sandhoff Disease
Metabolomics
Metabolites
Biomarkers
G(M2) Ganglioside