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

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机构	日期	题名	作者
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.
臺大學術典藏	2020-12-24T06:16:57Z	Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints	Ke Y.-Y.; Wang T.-J.; Lee D.-J.; Ma G.-C.; Lee N.-C.; Chen M.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:57Z	Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia	Schulze A.; Faghfoury H.; Korman S.H.; Hwu W.-L.; Santamar?a E.; YIN-HSIU CHIEN; Fern?ndez-Irigoyen J.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J.
臺大學術典藏	2020-12-24T06:16:56Z	Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening	Huang H.-J.; Lee N.-C.; YIN-HSIU CHIEN; Thurberg B.L.; Tsai F.-J.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:56Z	Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease	Chiang S.-C.; Zhang X.K.; Olivova P.; YIN-HSIU CHIEN; Lee N.-C.; Keutzer J.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:56Z	Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy	Hwu W.-L.; Schreiner C.; Baum R.; YIN-HSIU CHIEN; Raben N.; Ralston E.; Zaal K.J.M.; Plotz P.H.
臺大學術典藏	2020-12-24T06:16:56Z	Congenital hypopituitarism due to POU1F1 gene mutation	Lee N.-C.; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:53Z	A reliable password-based user authentication scheme for web-based human genome database system	Hwu W.-L.; Lai F.; YIN-HSIU CHIEN; Wu Z.-Y.; Chen W.-H.
臺大學術典藏	2020-12-24T06:16:53Z	Rapid progressive course of later-onset Pompe disease in Chinese patients	Hwu W.-L.; Jong Y.-J.; Chen S.-S.; Kuo Y.-T.; Lin S.-P.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Yang C.-C.
臺大學術典藏	2020-12-24T06:16:52Z	Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.	YIN-HSIU CHIEN; Lee N.C.; Chiang S.C.; Desnick R.J.; Hwu W.L.
臺大學術典藏	2020-12-24T06:16:52Z	Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system	Chang M.-H.; Chen H.-L.; Chang C.-C.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Ni Y.-H.; Su Y.-N.; Chen S.-T.
臺大學術典藏	2020-12-24T06:16:52Z	Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification	Huang H.-P.; Chen P.-H.; Hwu W.-L.; Chuang C.-Y.; YIN-HSIU CHIEN; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C.
臺大學術典藏	2020-12-24T06:16:51Z	Gene therapy for aromatic L-amino acid decarboxylase deficiency	Wu R.-M.; Tai C.-H.; Byrne B.J.; YIN-HSIU CHIEN; Snyder R.O.; Lee N.-C.; Tzen K.-Y.; Tseng S.-H.; Muramatsu S.-I.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:51Z	Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation	Lee N.-C.; Chen Y.-T.; Tsao P.-N.; Hsieh W.-S.; Chen C.-Y.; Chou H.-C.; Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:51Z	Early pathologic changes and responses to treatment in patients with later-onset Pompe disease	Hwu W.-L.; Thurberg B.L.; Huang P.-H.; Lee W.-T.; Lee N.-C.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:51Z	Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer	Chang K.-J.; Hwu W.-L.; Hsieh F.-J.; Cheng A.-L.; Lin C.-H.; Sargeant A.M.; Bai L.-Y.; Lu Y.-S.; Liu T.-P.; YIN-HSIU CHIEN; Kuo W.-H.; Lin P.-H.; Huang A.-C.

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