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
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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
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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
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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
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Kim J.C.; NI-CHUNG LEE; Hwu P.W.L.; Chien Y.-H.; Fahiminiya S.; Majewski J.; Watkins D.; Rosenblatt D.S. |