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

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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	2020-12-24T06:16:15Z	Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant	YIN-HSIU CHIEN; Wang P.-J.; Chien C.-C.; Hwu W.-L.; Chu S.-Y.
臺大學術典藏	2020-12-24T06:16:15Z	Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns	YIN-HSIU CHIEN; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:15Z	Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	YIN-HSIU CHIEN; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:14Z	Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma	YIN-HSIU CHIEN; Yang F.-J.; Weng H.-L.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L.
臺大學術典藏	2020-12-24T06:16:14Z	Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	Lee N.-C.; Lai F.; Lin I.-L.; Kuo C.-W.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Hung M.-Z.
臺大學術典藏	2020-12-24T06:16:14Z	Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort	Lin C.-H.; Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Chen S.-J.; Lee B.-C.
臺大學術典藏	2020-12-24T06:16:13Z	Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)	Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P.
臺大學術典藏	2020-12-24T06:16:13Z	Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice	Lee N.-C.; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; YIN-HSIU CHIEN
臺大學術典藏	2020-12-24T06:16:12Z	Dietary intake and nutritional status of patients with phenylketonuria in Taiwan	YIN-HSIU CHIEN; Lee N.-C.; Chen P.-R.; Hwu W.-L.; Yang F.-J.; Weng H.-L.
臺大學術典藏	2020-12-24T03:22:48Z	Identification and management of cardiac perforation from a double lumen catheter in an infant [6]	Huang S.-C.; Ko W.-J.; Wang C.-C.;Chen Y.-W.;En-Ting Wu;Chien Y.-H.;Hwu W.-L.;Ko W.-J.;Huang S.-C.; Wang C.-C.; Chen Y.-W.; EN-TING WU; Chien Y.-H.; Hwu W.-L.

Showing items 286-295 of 770 (77 Page(s) Totally)
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