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
Iduronate Sulfatase Medicine & Life Sciences
Enzyme Replacement Therapy Medicine & Life Sciences
Therapeutics Medicine & Life Sciences
Mutation Medicine & Life Sciences
Placebos Medicine & Life Sciences
Vital Capacity Medicine & Life Sciences
Hyperlysinemias Medicine & Life Sciences

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Projects 2002 2018

Research Output 1999 2014

  • 643 Citations
  • 5 h-Index
  • 6 Article
  • 2 Comment/debate
  • 1 Letter
19 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: Research - peer-reviewArticle

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 2013 In : Genetics in Medicine. 15, 10, p. 849 1 p.

Research output: Research - peer-reviewComment/debate

98 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 2011 In : Genetics in Medicine. 13, 2, p. 95-101 7 p.

Research output: Research - peer-reviewArticle

Iduronate Sulfatase
Mucopolysaccharidosis II
Therapeutics
Vital Capacity
Safety
130 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: Research - peer-reviewArticle

Mucopolysaccharidosis II
Enzyme Replacement Therapy
Phase II Clinical Trials
Clinical Trials, Phase I
Iduronic Acid
49 Citations
Congenital Disorders of Glycosylation
Agammaglobulinemia
Cardiomyopathies
Siblings
Fingers