• 2926 Citations
  • 24 h-Index
1986 …2019
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Research Output 1986 2019

  • 2926 Citations
  • 24 h-Index
  • 140 Article
  • 2 Letter
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Letter
2009
8 Citations (Scopus)

Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: Identification of a novel PANK2 gene mutation

Wu, Y. R., Chen, C. M., Chao, C. Y., Lyu, R. K. & Lee, G-J., 2009 Apr 30, In : Movement Disorders. 24, 6, p. 940-941 2 p.

Research output: Contribution to journalLetter

DNA Mutational Analysis
Pantothenate Kinase-Associated Neurodegeneration
Single-Photon Emission-Computed Tomography
Taiwan
Aspartic Acid
2007
1 Citation (Scopus)

Characterization of a novel p.S305P and a known c.1006 +5G > C splice site mutation in human iduronate-2-sulfatase associated with mucopolysaccharidosis type II

Chang, J. H., Lin, S. P., Chuang, C. K. & Lee, G-J., 2007 Sep 1, In : Clinica Chimica Acta. 384, 1-2, p. 167-170 4 p.

Research output: Contribution to journalLetter

Iduronate Sulfatase
Mucopolysaccharidosis II
Cercopithecus aethiops
RNA Splice Sites
COS Cells