• 682 Citations
  • 5 h-Index
19992018
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  • 3 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
Tyrosinemias Medicine & Life Sciences
Medicine Medicine & Life Sciences
Agammaglobulinemia Medicine & Life Sciences

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Projects 2002 2018

Research Output 1999 2017

  • 682 Citations
  • 5 h-Index
  • 7 Article
  • 2 Comment/debate
  • 1 Letter
  • 1 Review article

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

2 Citations

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

Chinsky, J. M., Singh, R., Ficicioglu, C., van Karnebeek, C. D. M., Grompe, M., Mitchell, G., Waisbren, S. E., Gucsavas-Calikoglu, M., Wasserstein, M. P., Coakley, K. & Scott, C. R., Dec 1 2017, In : Genetics in medicine : official journal of the American College of Medical Genetics. 19, 12

Research output: Contribution to journalReview article

Tyrosinemias
Consensus
Newborn Infant
Nutritionists
Therapeutics
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
108 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