- Clinical Characteristics, Genetic Features, and Long-Term Outcome of Wilson’s Disease in a Taiwanese Population: An 11-Year Follow-Up Study
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Fan SP, Kuo YC, Lee NC, Chien YH, Hwu WL, Huang YH, Lin HI, Tseng TC, Su TH, Tzeng SR, Hsu CT, Chen HL, Lin CH, Ni YH
- KMID: 2542421
- J Mov Disord.
- 2023 May;16(2):168-179.
- doi: 10.14802/jmd.22161
ObjectiveaaWilson’s disease (WD) is a rare genetic disorder of copper metabolism, and longitudinal follow-up studies are limited. We performed a retrospective analysis to determine the clinical characteristics and long-term outcomes... -
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- Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
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Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, Chien YH, Marodi L, Hwu WL, Bodamer OA
- KMID: 1707235
- Ann Lab Med.
- 2013 Jul;33(4):274-278.
- doi: 10.3343/alm.2013.33.4.274
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD). This study tested whether lyso-Gb3 could be... -
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