Fingerprint Fingerprint is based on mining the text of the persons 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
Iduronate Sulfatase Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Hyperlysinemias Medicine & Life Sciences
Congenital Disorders of Glycosylation Medicine & Life Sciences
Medicine Medicine & Life Sciences
Agammaglobulinemia Medicine & Life Sciences
Phase II Clinical Trials Medicine & Life Sciences

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Projects 2002 2018

Research Output 1999 2017

  • 666 Citations
  • 5 h-Index
  • 7 Article
  • 2 Comment/debate
  • 1 Letter

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

22 Citations

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia

Houten, S. M., Denis, S., Te Brinke, H., Jongejan, A., Van Kampen, A. H. C., Bradley, E. J., Baas, F., Hennekam, R. C. M., Millington, D. S., Young, S. P., Frazier, D. M., Gucsavas-Calikoglu, M. & Wanders, R. J. A. 2014 In : Human Molecular Genetics. 23, 18, p. 5009-5016 8 p., ddu218

Research output: Contribution to journalArticle

Hyperlysinemias
Coenzyme A
NADP
Oxidoreductases
Mutation

Erratum: Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome (Genetics in Medicine (2013) 13:2 (95-101) DOI: 10.1097/GIM.0b013e3181fea459)

Muenzer, J., Beck, M., Eng, C. M., Giugliani, R., Harmatz, P., Martin, R., Ramaswami, U., Vellodi, A., Wraith, J. E., Cleary, M., Gucsavas-Calikoglu, M., Puga, A. C., Shinawi, M., Ulbrich, B., Vijayaraghavan, S., Wendt, S., Conway, A. M., Rossi, A., Whiteman, D. A. H. & Kimura, A. Oct 1 2013 In : Genetics in Medicine. 15, 10, 1 p.

Research output: Contribution to journalComment/debate

Mucopolysaccharidosis II
Medicine
idursulfase
104 Citations

Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome

Muenzer, J., Beck, M., Eng, C. M., Giugliani, R., Harmatz, P., Martin, R., Ramaswami, U., Vellodi, A., Wraith, J. E., Cleary, M., Gucsavas-Calikoglu, M., Puga, A. C., Shinawi, M., Ulbrich, B., Vijayaraghavan, S., Wendt, S., Conway, A. M., Rossi, A., Whiteman, D. A. H. & Kimura, A. Feb 1 2011 In : Genetics in Medicine. 13, 2, p. 95-101 7 p.

Research output: Contribution to journalArticle

Iduronate Sulfatase
Mucopolysaccharidosis II
Vital Capacity
Enzyme Replacement Therapy
Safety
134 Citations

A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)

Muenzer, J., Gucsavas-Calikoglu, M., McCandless, S. E., Schuetz, T. J. & Kimura, A. Mar 1 2007 In : Molecular Genetics and Metabolism. 90, 3 SPEC. ISS., p. 329-337 9 p.

Research output: Contribution to journalArticle

Iduronic Acid
Mucopolysaccharidosis II
Iduronate Sulfatase
Sulfatases
Enzyme Replacement Therapy