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显示项目 181-190 / 345 (共35页)
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机构 日期 题名 作者
臺大學術典藏 2020-12-24T06:16:26Z Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease – need for an earlier treatment? YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L.; Fang J.-Y.
臺大學術典藏 2020-12-24T06:16:25Z Performance of the four-plex tandem mass spectrometry lysosomal storage disease newborn screening test: The necessity of adding a 2nd tier test for Pompe disease Chiang S.-C.; Chen P.-W.; Hwu W.-L.; Lee A.-J.; Chen L.-C.; Lee N.-C.; Chiou L.-Y.; YIN-HSIU CHIEN
臺大學術典藏 2020-12-24T06:16:24Z Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency Lee N.-C.; Liou H.-H.; Hwu W.-L.; Muramatsu S.-I.; Tsai L.-K.; YIN-HSIU CHIEN; Ho S.-Y.
臺大學術典藏 2020-12-24T06:16:24Z Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population Chang I.-F.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu R.-H.; Ho H.-C.; Chou S.-P.; Huang T.-M.; Lee N.-C.
臺大學術典藏 2020-12-24T06:16:24Z Congenital generalized lipodystrophy in Taiwan Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; Lee N.-C.
臺大學術典藏 2020-12-24T06:16:23Z Reply to Lutz-Bonengel et al.: Biparental mtDNA transmission is unlikely to be the result of nuclear mitochondrial DNA segments Luo S.; Alexander Valencia C.; Zhang J.; Lee N.-C.; Slone J.; Gui B.; Wang X.; Li Z.; Dell S.; Brown J.; Chen S.M.; YIN-HSIU CHIEN; Hwu W.-L.; Fan P.-C.; Wong L.-J.; Atwal P.S.; Huang T.
臺大學術典藏 2020-12-24T06:16:22Z Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease Wu J.-F.; YIN-HSIU CHIEN; Lee C.-S.; Hsu C.-T.; Chin C.-Y.
臺大學術典藏 2020-12-24T06:16:21Z Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency Hwu W.-L.; Tseng W.-Y.I.; Peng S.-F.; Hsu Y.-C.; Tseng C.-H.; YIN-HSIU CHIEN; Lee N.-C.
臺大學術典藏 2020-12-24T06:16:20Z Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia YIN-HSIU CHIEN; Chen N.-Q.; Tsai W.-H.; Juang J.-M.J.; Shun C.-T.; Chen Y.-S.; Hwu W.-L.; Lee N.-C.
臺大學術典藏 2020-12-24T06:16:20Z High incidence of co-existing GLA variants and stroke susceptibility YIN-HSIU CHIEN; Hwu W.-L.

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