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機構	日期	題名	作者
臺大學術典藏	2022-02-18T08:09:22Z	龐培（Pompe）氏症之酵素補充治療	WUH-LIANG HWU
臺大學術典藏	2022-02-18T08:09:22Z	肝醣儲積症Ia型的診斷與治療	簡穎秀; 郭惠珍; WUH-LIANG HWU
臺大學術典藏	2022-02-18T06:49:23Z	Molecular analysis of vietnamese patients with mucopolysaccharidosis type i	Can N.T.B.; Tran D.M.; Bui T.P.; Nguyen K.N.; Nguyen H.H.; Nguyen T.V.; WUH-LIANG HWU; Tomatsu S.; Vu D.C.
臺大學術典藏	2022-02-18T06:49:23Z	Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma	Ramaswami U.; Mengel E.; Berrah A.; AlSayed M.; Broomfield A.; Donald A.; seif El Dein H.M.; Freisens S.; WUH-LIANG HWU; Peterschmitt M.J.; Yoo H.-W.; Abdelwahab M.
臺大學術典藏	2022-02-18T06:49:23Z	Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios	Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; WUH-LIANG HWU; Lee C.-N.; Tsai I.-J.; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	A novel deep intronic variant strongly associates with Alkaptonuria	Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients	Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; Chien Y.-H.; Wang Y.-T.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:22Z	A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease	Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; WUH-LIANG HWU; Lee N.-C.; Lin C.-Y.; Chien Y.-H.
臺大學術典藏	2022-02-18T06:49:21Z	Advanced therapeutic strategy for hereditary neuromuscular diseases	WUH-LIANG HWU; Muramatsu S.-I.; Chien Y.-H.; Byrne B.J.
臺大學術典藏	2022-02-18T06:49:21Z	Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience	Cho C.-Y.; Tsai W.-Y.; Lee C.-T.; Liu S.-Y.; Huang S.-Y.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tung Y.-C.
臺大學術典藏	2022-02-18T06:49:21Z	Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy	Chen C.-L.; Lee C.-N.; Chien Y.-H.; WUH-LIANG HWU; Chang T.-M.; Lee N.-C.
臺大學術典藏	2022-02-18T06:49:20Z	Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency	Tai C.-H.; Lee N.-C.; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; WUH-LIANG HWU
臺大學術典藏	2021-07-14T03:36:13Z	The Ethics and Guidelines of Next-Generation Sequencing Genetic Testing and Counseling	DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yin-Hsiu Chien; Ni-Chung Lee; Hung Chih-Yu Wang; Shuan-Pei Lin; Wuh-Liang Hwu
臺大學術典藏	2021-06-09T08:12:23Z	Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study	Whyte M.P.;Leung E.;Wilcox W.R.;Liese J.;Argente J.;Martos-Moreno G.?.;Reeves A.;Fujita K.P.;Moseley S.;Hofmann C.;Beck M.;Dimeglio L.;Wuh-Liang Hwu;Simm P.;Simmons J.;Steelman J.;Steiner R.D.;Superti-Furga A.;Study 011-10 Investigators; Whyte M.P.; Leung E.; Wilcox W.R.; Liese J.; Argente J.; Martos-Moreno G.?.; Reeves A.; Fujita K.P.; Moseley S.; Hofmann C.; Beck M.; DiMeglio L.; WUH-LIANG HWU; Simm P.; Simmons J.; Steelman J.; Steiner R.D.; Superti-Furga A.; Study 011-10 Investigators
臺大學術典藏	2021-06-09T08:12:22Z	Diversity in heritable disorders of connective tissue at a single center	Hsu R.-H.;Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.; Hsu R.-H.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2021-06-09T08:12:22Z	Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?	Wu E.-T.;Wuh-Liang Hwu;Chien Y.-H.;Hsu C.;Chen T.-F.;Chen N.-Q.;Chou H.-C.;Tsao P.-N.;Fan P.-C.;Tsai I.-J.;Lin S.-P.;Hsieh W.-S.;Chang T.-M.;Chen C.-N.;Lee C.-H.;Chou Y.-Y.;Chiu P.-C.;Tsai W.-H.;Hsiung H.-C.;Lai F.;Lee N.-C.; Wu E.-T.; WUH-LIANG HWU; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C.
臺大學術典藏	2021-06-09T08:12:21Z	Children Conceived by Assisted Reproductive Technology Prone to Low Birth Weight, Preterm Birth, and Birth Defects: A Cohort Review of More Than 50,000 Live Births During 2011–2017 in Taiwan	Chang H.-Y.;Wuh-Liang Hwu;Chen C.-H.;Hou C.-Y.;Cheng W.; Chang H.-Y.; WUH-LIANG HWU; Chen C.-H.; Hou C.-Y.; Cheng W.
臺大學術典藏	2021-06-09T08:12:21Z	Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome	Fang W.-Q.;Wuh-Liang Hwu;Chien Y.-H.;Yang S.-Y.;Chieh J.-J.;Chang L.-M.;Huang A.-C.;Lee N.-C.;Chiu M.-J.; Fang W.-Q.; WUH-LIANG HWU; Chien Y.-H.; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J.
臺大學術典藏	2021-06-09T08:12:20Z	Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort	Chen S.-J.;Lee B.-C.;Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu;Lin C.-H.; Chen S.-J.; Lee B.-C.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Lin C.-H.
臺大學術典藏	2021-06-09T08:12:19Z	Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma	Weng H.-L.;Yang F.-J.;Chien Y.-H.;Chen P.-R.;Lin Z.-X.;Lee N.-C.;Wuh-Liang Hwu; Weng H.-L.; Yang F.-J.; Chien Y.-H.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; WUH-LIANG HWU
臺大學術典藏	2021-06-09T08:12:19Z	Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes	Kuo C.-W.;Wuh-Liang Hwu;Chien Y.-H.;Hsu C.;Hung M.-Z.;Lin I.-L.;Lai F.;Lee N.-C.; Kuo C.-W.; WUH-LIANG HWU; Chien Y.-H.; Hsu C.; Hung M.-Z.; Lin I.-L.; Lai F.; Lee N.-C.
臺大學術典藏	2021-06-09T08:12:18Z	Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)	Lin H.-Y.;Lee C.-L.;Chang C.-Y.;Chiu P.C.;Chien Y.-H.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chao M.-C.;Chang T.-M.;Tsai W.-H.;Wang T.-J.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; Chien Y.-H.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; 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	2021-06-09T08:12:18Z	Towards a reference genome that captures global genetic diversity	Wong K.H.Y.;Ma W.;Wei C.-Y.;Yeh E.-C.;Lin W.-J.;Wang E.H.F.;Su J.-P.;Hsieh F.-J.;Kao H.-J.;Chen H.-H.;Chow S.K.;Young E.;Chu C.;Poon A.;Yang C.-F.;Lin D.-S.;Hu Y.-F.;Wu J.-Y.;Lee N.-C.;Wuh-Liang Hwu;Boffelli D.;Martin D.;Xiao M.;Kwok P.-Y.; Wong K.H.Y.; Ma W.; Wei C.-Y.; Yeh E.-C.; Lin W.-J.; Wang E.H.F.; Su J.-P.; Hsieh F.-J.; Kao H.-J.; Chen H.-H.; Chow S.K.; Young E.; Chu C.; Poon A.; Yang C.-F.; Lin D.-S.; Hu Y.-F.; Wu J.-Y.; Lee N.-C.; WUH-LIANG HWU; Boffelli D.; Martin D.; Xiao M.; Kwok P.-Y.
臺大學術典藏	2021-06-09T08:12:17Z	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.;Wuh-Liang Hwu;Tseng W.-Y.I.;Chien Y.-H.; Lee N.-C.; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; WUH-LIANG HWU; Tseng W.-Y.I.; Chien Y.-H.
臺大學術典藏	2021-06-09T08:12:16Z	Dietary intake and nutritional status of patients with phenylketonuria in Taiwan	Weng H.-L.;Yang F.-J.;Chen P.-R.;Wuh-Liang Hwu;Lee N.-C.;Chien Y.-H.; Weng H.-L.; Yang F.-J.; Chen P.-R.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.

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