臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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Institution	Date	Title	Author
臺大學術典藏	2020-12-24T06:17:01Z	X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males	Chen S.-T.; Chen H.-L.; Ni Y.-H.; YIN-HSIU CHIEN; Jeng Y.-M.; Chang M.-H.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:17:00Z	Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan	Lin S.-J.; Pan H.-P.; Tsai F.-J.; Ke Y.-Y.; Lin D.-S.; YIN-HSIU CHIEN; Chen C.-P.; Chuang C.-K.; Chen M.-R.; Lin H.-Y.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P.
臺大學術典藏	2020-12-24T06:17:00Z	Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan	Kao S.-M.; Hwu W.-L.; Ho H.-C.; Chiang C.-C.; Niu D.-M.; YIN-HSIU CHIEN; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J.
臺大學術典藏	2020-12-24T06:17:00Z	Pompe disease in infants: Improving the prognosis by newborn screening and early treatment	Wu M.-H.; Huang A.-C.; Keutzer J.; Zhang X.K.; Thurberg B.L.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:59Z	Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program	Hwu W.-L.; Scholl T.; Labrousse P.; YIN-HSIU CHIEN; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.
臺大學術典藏	2020-12-24T06:16:59Z	CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency	Chang K.-L.; Hwu W.-L.; Yeh H.-Y.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:58Z	Newborn screening for neuropathic lysosomal storage disorders	Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:58Z	Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening	Huang A.-C.; Hwu W.-L.; Chiu P.-C.; Lin S.-J.; Chen C.-A.; YIN-HSIU CHIEN; Tang N.L.-S.; Lee N.-C.
臺大學術典藏	2020-12-24T06:16:57Z	Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry	YIN-HSIU CHIEN; De Jesus V.R.; Orsini J.J.; Keutzer J.; Dajnoki A.; Fekete G.; Hwu W.-L.; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O.
臺大學術典藏	2020-12-24T06:16:57Z	Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease	YIN-HSIU CHIEN; Lee N.-C.; Tsai F.-J.; Chao M.-C.; Hwu W.-L.

Showing items 206-215 of 770 (77 Page(s) Totally)
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