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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 2022-03-28T02:46:00Z STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa Gutschmidt K.; Musumeci O.; D?az-Manera J.; YIN-HSIU CHIEN; Knop K.C.; Wenninger S.; Montagnese F.; Pugliese A.; Tavilla G.; Alonso-P?rez J.; Hwu P.W.-L.; Toscano A.; Schoser B.
臺大學術典藏 2022-02-18T06:49:23Z Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease Hwu P.W.-L.; Kiening K.; Anselm I.; Compton D.R.; Nakajima T.; Opladen T.; Pearl P.L.; Roubertie A.; Roujeau T.; Muramatsu S.-I.
臺大學術典藏 2020-12-24T06:16:48Z Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing Rosenblatt D.S.; Watkins D.; Majewski J.; Fahiminiya S.; YIN-HSIU CHIEN; Hwu P.W.L.; Lee N.-C.; Kim J.C.
臺大學術典藏 2020-12-09T01:38:30Z Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: Diagnosis and novel mutation revealed by exome sequencing Kim J.C.; NI-CHUNG LEE; Hwu P.W.L.; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S.

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