Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 2 Similar Profiles
Mucopolysaccharidosis II Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Mucopolysaccharidosis I Medicine & Life Sciences
Glycosaminoglycans Medicine & Life Sciences
Enzymes Medicine & Life Sciences
Iduronate Sulfatase Medicine & Life Sciences

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Projects 2000 2016

Research Output 1971 2017

Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations

Couser, N. L., McClure, J., Evans, M. W., Haines, N. R., Burden, S. K. & Muenzer, J. Jan 2 2017 In : Ophthalmic Genetics. 38, 1, p. 91-94 4 p.

Research output: Research - peer-reviewArticle

Lens Subluxation
Young Adult
Methylenetetrahydrofolate reductase deficiency
29 Citations

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

Muenzer, J., Hendriksz, C. J., Fan, Z., Vijayaraghavan, S., Perry, V., Santra, S., Solanki, G. A., Mascelli, M. A., Pan, L., Wang, N., Sciarappa, K. & Barbier, A. J. Jan 1 2016 In : Genetics in Medicine. 18, 1, p. 73-81 9 p.

Research output: Research - peer-reviewArticle

Iduronate Sulfatase
Mucopolysaccharidosis II
Cognitive Dysfunction
Cerebrospinal Fluid

Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator

Pupavac, M., Watkins, D., Petrella, F., Fahiminiya, S., Janer, A., Cheung, W., Gingras, A. C., Pastinen, T., Muenzer, J., Majewski, J., Shoubridge, E. A. & Rosenblatt, D. S. Sep 1 2016 In : Human Mutation. 37, 9, p. 976-982 7 p.

Research output: Research - peer-reviewArticle

Inborn Errors Metabolism
Vitamin B 12
4 Citations

High-Pressure Transvenous Perfusion of the Upper Extremity in Human Muscular Dystrophy: A Safety Study with 0.9% Saline

Fan, Z., Kocis, K., Valley, R., Howard, J. F., Chopra, M., Chen, Y., An, H., Lin, W., Muenzer, J. & Powers, W. Jan 1 2015 In : Human Gene Therapy. 26, 9, p. 614-621 8 p.

Research output: Research - peer-reviewArticle

Muscular Dystrophies
Upper Extremity
1 Citations

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Hendriksz, C. J., Muenzer, J., Vanderver, A., Davis, J. M., Burton, B. K., Mendelsohn, N. J., Wang, N., Pan, L., Pano, A. & Barbier, A. J. Dec 1 2015 In : Molecular Genetics and Metabolism Reports. 5, p. 103-106 4 p.

Research output: Research - peer-reviewArticle

Mucopolysaccharidosis II
Cerebrospinal Fluid
Young Adult
Cognitive Dysfunction