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Mucopolysaccharidosis II Medicine & Life Sciences
Mucopolysaccharidoses Medicine & Life Sciences
Mucopolysaccharidosis I Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Iduronate Sulfatase Medicine & Life Sciences
Glycosaminoglycans Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Enzymes 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: Contribution to journalArticle

Lens Subluxation
Homocystinuria
Ectopia Lentis
Young Adult
Homocysteine
31 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: Contribution to journalArticle

Iduronate Sulfatase
Mucopolysaccharidosis II
Glycosaminoglycans
Cerebrospinal Fluid
Lysosomal Storage Diseases

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: Contribution to journalArticle

Transcobalamins
Inborn Errors Metabolism
Vitamin B 12
Mutation
Methylmalonyl-CoA Mutase
5 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: Contribution to journalArticle

Muscular Dystrophies
Upper Extremity
Extremities
Perfusion
Safety
2 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: Contribution to journalArticle

Mucopolysaccharidosis II
Glycosaminoglycans
Cerebrospinal Fluid
Young Adult
Mucopolysaccharidoses