• 4658 Citations
  • 35 h-Index
1971 …2017
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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
Mucopolysaccharidosis III Medicine & Life Sciences

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Projects 2000 2016

Research Output 1971 2017

2 Citations

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study

Viskochil, D., Muenzer, J., Guffon, N., Garin, C., Munoz-Rojas, M. V., Moy, K. A. & Hutchinson, D. T., Dec 1 2017, In : Developmental Medicine and Child Neurology. 59, 12, p. 1269-1275 7 p.

Research output: Contribution to journalArticle

Mucopolysaccharidosis I
Carpal Tunnel Syndrome
Neural Conduction
Preschool Children
Registries
2 Citations

Clinical outcomes in idursulfase-treated patients with mucopolysaccharidosis type II: 3-year data from the hunter outcome survey (HOS)

Muenzer, J., Giugliani, R., Scarpa, M., Tylki-Szymańska, A., Jego, V. & Beck, M., Oct 3 2017, In : Orphanet journal of rare diseases. 12, 1, 161

Research output: Contribution to journalArticle

Mucopolysaccharidosis III
Mucopolysaccharidosis II
Lysosomal Storage Diseases
Iduronate Sulfatase
Enzyme Replacement Therapy
6 Citations

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure

van der Lee, J. H., Morton, J., Adams, H. R., Clarke, L., Ebbink, B. J., Escolar, M. L., Giugliani, R., Harmatz, P., Hogan, M., Jones, S., Kearney, S., Muenzer, J., Rust, S., Semrud-Clikeman, M., Wijburg, F. A., Yu, Z. F., Janzen, D. & Shapiro, E., Jun 1 2017, In : Molecular Genetics and Metabolism. 121, 2, p. 70-79 10 p.

Research output: Contribution to journalReview article

Mucopolysaccharidoses
Psychological Adaptation
Cognitive Therapy
Consensus
Clinical Trials

Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome

Couser, N. L., Marchuk, D. S., Smith, L. D., Arreola, A., Kaiser-Rogers, K. A., Muenzer, J., Pandya, A., Gucsavas-Calikoglu, M. & Powell, C. M., Oct 1 2017, In : American Journal of Medical Genetics, Part A. 173, 10, p. 2720-2724 5 p.

Research output: Contribution to journalArticle

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