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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:25:08Z	Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs	Hsu R.-H.;Wuh-Liang Hwu;Chen M.;Chung I.-F.;Peng S.S.-F.;Chen C.-Y.;Cheng W.-C.;Chien Y.-H.;Lee N.-C.; Hsu R.-H.; WUH-LIANG HWU; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:07Z	Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups	Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Wuh-Liang Hwu;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; WUH-LIANG HWU; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M.
臺大學術典藏	2020-12-16T02:25:07Z	Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment	Molema F.;Gleich F.;Burgard P.;Van Der Ploeg A.T.;Summar M.L.;Chapman K.A.;Lund A.M.;Rizopoulos D.;K?Lker S.;Williams M.;H?Rster F.;Jelsig A.M.;De Lonlay P.;Wijburg F.A.;Bosch A.;Freisinger P.;Posset R.;Augoustides-Savvopoulou P.;Avram P.;Deleanu C.;Baumgartner M.R.;H?Berle J.;Blasco-Alonso J.;Burlina A.B.;Rubert L.;Cazorla A.G.;Saladelafont E.C.I.;Dionisi-Vici C.;Martinelli D.;Dobbelaere D.;Mention K.;Gr?Newald S.;Chakrapani A.;Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Karall D.;Scholl-B?Rgi S.;De Laet C.;Matsumoto S.;De Meirleir L.;Schiff M.;Pe?A-Quintana L.;Djordjevic M.;Sarajlija A.;Sykut-Cegielska J.;Wisniewska A.;Leao-Teles E.;Alves S.;Vara R.;Vives-Pinera I.;Gil-Ortega D.;Morris A.;Zeman J.;Honzik T.;Chabrol B.;Arnaudo F.;Cano A.;Thompson N.;Eyskens F.;Lindner M.;L?Sebrink N.;Jalan A.;Sokal E.;Legros V.;Nassogne M.C.;Bari? I.;Additional Individual Contributors From E-Imd; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Karall D.; Scholl-B?rgi S.; De Laet C.; Matsumoto S.; de Meirleir L.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I.; Additional individual contributors from E-IMD
臺大學術典藏	2020-12-16T02:25:06Z	Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency	Yu H.-H.;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yang Y.-H.;Wuh-Liang Hwu;Chiang B.-L.; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; WUH-LIANG HWU; Chiang B.-L.
臺大學術典藏	2020-12-16T02:25:06Z	Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency	Tseng C.-H.;Chien Y.-H.;Lee N.-C.;Hsu Y.-C.;Peng S.-F.;Tseng W.-Y.I.;Wuh-Liang Hwu; Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:06Z	Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses	Lin H.-Y.;Chan W.-C.;Chen L.-J.;Lee Y.-C.;Yeh S.-I.;Niu D.-M.;Chiu P.C.;Tsai W.-H.;Wuh-Liang Hwu;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Chan W.-C.; Chen L.-J.; Lee Y.-C.; Yeh S.-I.; Niu D.-M.; Chiu P.C.; Tsai W.-H.; WUH-LIANG HWU; Chuang C.-K.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:06Z	Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA	Lin H.-Y.;Chuang C.-K.;Ke Y.-Y.;Hsu C.-C.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Ke Y.-Y.; Hsu C.-C.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:05Z	High incidence of co-existing GLA variants and stroke susceptibility	Chien Y.-H.;Wuh-Liang Hwu; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:05Z	A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan	Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:04Z	Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry	Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Saladelafont E.C.I.; Dionisi-Vici C.; Martinelli D.; Dobbelaere D.; Mention K.; Gr?newald S.; Chakrapani A.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Karall D.; Scholl-B?rgi S.; Lachmann R.; De Laet C.; Matsumoto S.; de Meirleir L.; M?hlhausen C.; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Molema F.;Gleich F.;Burgard P.;Van Der Ploeg A.T.;Summar M.L.;Chapman K.A.;Bari? I.;Lund A.M.;K?Lker S.;Williams M.;H?Rster F.;Jelsig A.M.;De Lonlay P.;Wijburg F.A.;Bosch A.;Freisinger P.;Posset R.;Augoustides-Savvopoulou P.;Avram P.;Deleanu C.;Baumgartner M.R.;H?Berle J.;Blasco-Alonso J.;Burlina A.B.;Rubert L.;Cazorla A.G.;Saladelafont E.C.I.;Dionisi-Vici C.;Martinelli D.;Dobbelaere D.;Mention K.;Gr?Newald S.;Chakrapani A.;Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Karall D.;Scholl-B?Rgi S.;Lachmann R.;De Laet C.;Matsumoto S.;De Meirleir L.;M?Hlhausen C.;Schiff M.;Pe?A-Quintana L.;Djordjevic M.;Sarajlija A.;Sykut-Cegielska J.;Wisniewska A.;Leao-Teles E.;Alves S.;Vara R.;Vives-Pinera I.;Ortega D.G.;Morris A.;Zeman J.;Honzik T.;Chabrol B.;Arnaudo F.;Cano A.;Thompson N.;Eyskens F.;Lindner M.;L?Sebrink N.;Jalan A.;Sokal E.;Legros V.;Nassogne M.C.;Additional Individual Contributors From E-Imd; Molema F.
臺大學術典藏	2020-12-16T02:25:04Z	Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population	Chen S.-J.;Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu;Lin C.-H.; Chen S.-J.; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Lin C.-H.
臺大學術典藏	2020-12-16T02:25:04Z	Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia	Juang J.-M.J.;Shun C.-T.;Chen Y.-S.;Wuh-Liang Hwu;Lee N.-C.;Tsai W.-H.;Chen N.-Q.;Chien Y.-H.; Juang J.-M.J.; Shun C.-T.; Chen Y.-S.; WUH-LIANG HWU; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:03Z	Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese	Yu M.H.-C.;Tsang M.H.-Y.;Lai S.;Ho M.S.-P.;Tse D.M.L.;Willis B.;Kwong A.K.-Y.;Chou Y.-Y.;Lin S.-P.;Quinzii C.M.;Wuh-Liang Hwu;Chien Y.-H.;Kuo P.-L.;Chan V.C.-M.;Tsoi C.;Chong S.-C.;Rodenburg R.J.T.;Smeitink J.;Mak C.C.-Y.;Yeung K.-S.;Fung J.L.-F.;Lam W.;Hui J.;Lee N.-C.;Fung C.-W.;Chung B.H.-Y.; Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Tse D.M.L.; Willis B.; Kwong A.K.-Y.; Chou Y.-Y.; Lin S.-P.; Quinzii C.M.; WUH-LIANG HWU; Chien Y.-H.; Kuo P.-L.; Chan V.C.-M.; Tsoi C.; Chong S.-C.; Rodenburg R.J.T.; Smeitink J.; Mak C.C.-Y.; Yeung K.-S.; Fung J.L.-F.; Lam W.; Hui J.; Lee N.-C.; Fung C.-W.; Chung B.H.-Y.
臺大學術典藏	2020-12-16T02:25:03Z	Clinical features of Pompe disease with motor neuronopathy	Tsai L.-K.;Wuh-Liang Hwu;Lee N.-C.;Huang P.-H.;Chien Y.-H.; Tsai L.-K.; WUH-LIANG HWU; Lee N.-C.; Huang P.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:03Z	Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study	Sansone V.A.; Ben-Omran T.; Topaloglu H.; Butterfield R.J.; De Vivo D.C.;Bertini E.;Swoboda K.J.;Wuh-Liang Hwu;Crawford T.O.;Finkel R.S.;Kirschner J.;Kuntz N.L.;Parsons J.A.;Ryan M.M.;Butterfield R.J.;Topaloglu H.;Ben-Omran T.;Sansone V.A.;Jong Y.-J.;Shu F.;Staropoli J.F.;Kerr D.;Sandrock A.W.;Stebbins C.;Petrillo M.;Braley G.;Johnson K.;Foster R.;Gheuens S.;Bhan I.;Reyna S.P.;Fradette S.;Farwell W.;Nurture Study Group; De Vivo D.C.; Bertini E.; Swoboda K.J.; WUH-LIANG HWU; Crawford T.O.; Finkel R.S.; Kirschner J.; Kuntz N.L.; Parsons J.A.; Ryan M.M.; Jong Y.-J.; Shu F.; Staropoli J.F.; Kerr D.; Sandrock A.W.; Stebbins C.; Petrillo M.; Braley G.; Johnson K.; Foster R.; Gheuens S.; Bhan I.; Reyna S.P.; Fradette S.; Farwell W.; NURTURE Study Group
臺大學術典藏	2020-12-16T02:25:02Z	Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center	Liu M.-Y.;Lee C.-T.;Lee N.-C.;Tung Y.-C.;Chien Y.-H.;Wuh-Liang Hwu;Tsai W.-Y.; Liu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU; Tsai W.-Y.
臺大學術典藏	2020-12-16T02:25:02Z	Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidoses	Lin H.-Y.;Lee C.-L.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chang T.-M.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Lin J.-L.; Chang T.-M.; Chuang C.-K.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:02Z	REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample	Lee N.-C.;Hsu W.-C.;Chang L.-M.;Chen Y.-C.;Huang P.-T.;Chien C.-C.;Chien Y.-H.;Chen C.-L.;Wuh-Liang Hwu;Lee P.-L.; Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; Chen C.-L.; WUH-LIANG HWU; Lee P.-L.
臺大學術典藏	2020-12-16T02:25:01Z	Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan	Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Wuh-Liang Hwu;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Wu M.-H.;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; Lee C.-L.; Tan L.T.H.-C.; Lin H.-Y.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.; Chuang C.-K.; Wu M.-H.; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:01Z	Development of newborn screening for pompe disease	Wuh-Liang Hwu;Chien Y.-H.; WUH-LIANG HWU; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:01Z	Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing	Hwa H.-L.; Wu M.-Y.; Lee J.C.-I.; Yin H.-I.; Hsu P.-M.; Li S.-F.; WUH-LIANG HWU; Su C.-W.
臺大學術典藏	2020-12-16T02:25:00Z	Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns	Chien Y.-H.;Lee N.-C.;Chen P.-W.;Yeh H.-Y.;Gelb M.H.;Chiu P.-C.;Chu S.-Y.;Lee C.-H.;Lee A.-R.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:00Z	Modified frameless stereotactic system for intracerebral delivery of viral vector in young children	Tai C.-H.;Wuh-Liang Hwu;Wu R.-M.;Tseng S.-H.; Tai C.-H.; WUH-LIANG HWU; Wu R.-M.; Tseng S.-H.
臺大學術典藏	2020-12-16T02:24:59Z	Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences	Chien Y.-H.; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:24:59Z	Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant	Chu S.-Y.;Chien C.-C.;Wuh-Liang Hwu;Wang P.-J.;Chien Y.-H.; Chu S.-Y.; Chien C.-C.; WUH-LIANG HWU; Wang P.-J.; Chien Y.-H.

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