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Institution	Date	Title	Author
臺大學術典藏	2020-12-16T02:25:28Z	Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease	Chien Y.-H.; Han D.-S.; WUH-LIANG HWU; Thurberg B.L.; Yang W.-S.
臺大學術典藏	2020-12-16T02:25:28Z	Outcome of early-treated type III Gaucher disease patients	Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; Shun C.-T.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:28Z	Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation	Chien Y.-H.; Bodamer O.A.; Chiang S.-C.; Mascher H.; Hung C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:27Z	Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism	Tsai I.-J.; WUH-LIANG HWU; Huang S.-C.; Lee N.-C.; Wu E.-T.; Chien Y.-H.; Tsau Y.-K.
臺大學術典藏	2020-12-16T02:25:27Z	Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice	Tsai L.-K.; Chen C.-L.; Ting C.-H.; Lin-Chao S.; WUH-LIANG HWU; Dodge J.C.; Passini M.A.; Cheng S.H.
臺大學術典藏	2020-12-16T02:25:27Z	Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta	Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:26Z	Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype	Lee D.-H.; Qiu W.-J.; Lee J.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:26Z	Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease	Chien Y.-H.;Lee N.-C.;Tsai Y.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai Y.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:26Z	Application of mass spectrometry in newborn screening: About both small molecular diseases and lysosomal storage diseases	WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Wang S.-F.; Chiang S.-C.; Hsu L.-W.
臺大學術典藏	2020-12-16T02:25:26Z	A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4-7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy	Giugliani R.; WUH-LIANG HWU; Tylki-Szymanska A.; Whiteman D.A.H.; Pano A.
臺大學術典藏	2020-12-16T02:25:25Z	Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector	Lee N.-C.; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; Tzen K.-Y.; Byrne B.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:25Z	Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA	Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.
臺大學術典藏	2020-12-16T02:25:25Z	The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients	Feeney E.J.; Austin S.; Chien Y.-H.; Mandel H.; Schoser B.; Prater S.; WUH-LIANG HWU; Ralston E.; Kishnani P.S.; Raben N.
臺大學術典藏	2020-12-16T02:25:25Z	Parental discussion of G6PD deficiency and child health: Implications for clinical practice	Guan Y.; Roter D.L.; Huang A.; Erby L.A.H.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:24Z	Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth	Chien Y.-H.; Lee N.-C.; Chen C.-A.; Tsai F.-J.; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:24Z	Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening	Chien Y.-H.; Goldstein J.L.; WUH-LIANG HWU; Smith P.B.; Lee N.-C.; Chiang S.-C.; Tolun A.A.; Zhang H.; Vaisnins A.E.; Millington D.S.; Kishnani P.S.; Young S.P.
臺大學術典藏	2020-12-16T02:25:24Z	Incidence of severe combined immunodeficiency through newborn screening in a Chinese population	Chang K.-L.; Chiang S.-C.; Chien Y.-H.; Yu H.-H.; Lee W.-I.; Tsai L.-P.; Hsu L.-W.; Hu M.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:24Z	Diagnosis of aromatic l-amino acid decarboxylase deficiency by measuring 3-O-methyldopa concentrations in dried blood spots	Chen P.-W.; Lee N.-C.; Chien Y.-H.; Wu J.-Y.; Wang P.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:23Z	Mudd's disease (MAT I/III deficiency): A survey of data for MAT1A homozygotes and compound heterozygotes	Chien Y.-H.; Abdenur J.E.; Baronio F.; Bannick A.A.; Corrales F.; Couce M.; Donner M.G.; Ficicioglu C.; Freehauf C.; Frithiof D.; Gotway G.; Hirabayashi K.; Hofstede F.; Hoganson G.; WUH-LIANG HWU; James P.; Kim S.; Korman S.H.; Lachmann R.; Levy H.; Lindner M.; Lykopoulou L.; Mayatepek E.; Muntau A.; Okano Y.; Raymond K.; Rubio-Gozalbo E.; Scholl-B?rgi S.; Schulze A.; Singh R.; Stabler S.; Stuy M.; Thomas J.; Wagner C.; Wilson W.G.; Wortmann S.; Yamamoto S.; Pao M.; Blom H.J.
臺大學術典藏	2020-12-16T02:25:23Z	Congenital malformations in newborns - A challenge unmet for decades	Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:23Z	Pincer nail deformity as the main manifestation of Clouston syndrome	Hu Y.-H.;Lin Y.-C.;Wuh-Liang Hwu;Lee Y.-M.; Hu Y.-H.; Lin Y.-C.; WUH-LIANG HWU; Lee Y.-M.
臺大學術典藏	2020-12-16T02:25:22Z	Hypothermia improves disease manifestations in SMA mice via SMN augmentation	Tsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:22Z	Bioevaluation of sixteen ADMDP stereoisomers toward alpha-galactosidase A: Development of a new pharmacological chaperone for the treatment of Fabry disease and potential enhancement of enzyme replacement therapy efficiency	Cheng W.-C.; Wang J.-H.; Li H.-Y.; Lu S.-J.; Hu J.-M.; Yun W.-Y.; Chiu C.-H.; Yang W.-B.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:22Z	Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency	Lee N.-C.; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; Tzen K.-Y.; Byrne B.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:21Z	Long-term outcome for Down syndrome patients with hematopoietic disorders	Li M.-J.; Lee N.-C.; Yang Y.-L.; Yen H.-J.; Chang H.-H.; Chien Y.-H.; Lu M.-Y.; Jou S.-T.; Lin K.-H.; WUH-LIANG HWU; Lin D.-T.
臺大學術典藏	2020-12-16T02:25:21Z	Advances in newborn screening for Pompe disease and resulting clinical outcomes	Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:21Z	Mutation-adapted U1 snRNA corrects a splicing error of the dopa decarboxylase gene	Lee N.-C.; Lee Y.-M.; Chen P.-W.; Byrne B.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:20Z	Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series	Lin H.-Y.;Chuang C.-K.;Wang C.-H.;Chien Y.-H.;Wang Y.-M.;Tsai F.-J.;Chou Y.-Y.;Lin S.J.;Pan H.-P.;Niu D.-M.;Wuh-Liang Hwu;Ke Y.-Y.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU; Ke Y.-Y.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:20Z	Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme	Peng S.S.-F.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:20Z	Integrated care for Down syndrome	Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:20Z	Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI	Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.-M.; Hung C.-L.; Chang C.-Y.; Chiu P.C.; Tsai W.-H.; Niu D.-M.; Tsai F.-J.; Lin S.J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:19Z	3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency	Chien Y.-H.; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; WUH-LIANG HWU; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C.
臺大學術典藏	2020-12-16T02:25:19Z	Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme	Lin H.-Y.;Chuang C.-K.;Huang Y.-H.;Tu R.-Y.;Lin F.-J.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Chou Y.-Y.;Tsai W.-H.;Chang T.-M.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:19Z	Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders	Posset R.; Garcia-Cazorla A.; Valayannopoulos V.; Teles E.L.; Dionisi-Vici C.; Brassier A.; Burlina A.B.; Burgard P.; Cort?s-Saladelafont E.; Dobbelaere D.; Couce M.L.; Sykut-Cegielska J.; H?berle J.; Lund A.M.; Chakrapani A.; Schiff M.; Walter J.H.; Zeman J.; Vara R.; K?lker S.; Additional individual contributors of the E-IMD consortium, Jean-Arnoux B.; Bari I.; Bauchart E.; Baumgartner M.R.; Blasco-Alonso J.; Cardoso M.T.; Chabrol B.; Djordjevic M.; Eyskens F.; Freisinger P.; Gleich F.; Gradowska W.; Gr?newald S.; Haege G.; WUH-LIANG HWU; Ioannou H.; Jalan A.; Karall D.; de Laet C.; Lindner M.; de Lonlay P.; Martinelli D.; de Meirleir L.; Mention K.; M?hlhausen C.; Murphy E.; de Baulny H.O.; Ortez C.; Pe?a-Quintana L.; Riches V.; Rodrigues E.; Sokal E.; Thompson N.; Wijburg F.A.; Williams M.; Zielonka M.
臺大學術典藏	2020-12-16T02:25:18Z	Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease	Zeng Y.-T.;Wuh-Liang Hwu;Torng P.-C.;Lee N.-C.;Shieh J.-Y.;Lu L.;Chien Y.-H.; Zeng Y.-T.; WUH-LIANG HWU; Torng P.-C.; Lee N.-C.; Shieh J.-Y.; Lu L.; Chien Y.-H.
臺大學術典藏	2020-12-16T02:25:18Z	Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease	Chiang H.-L.;Wang N.H.-H.;Song I.-W.;Chang C.-P.;Wen M.-S.;Chien Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chen Y.-T.;Wu J.-Y.; Chiang H.-L.; Wang N.H.-H.; Song I.-W.; Chang C.-P.; Wen M.-S.; Chien Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chen Y.-T.; Wu J.-Y.
臺大學術典藏	2020-12-16T02:25:18Z	Glypican-3 induces oncogenicity by preventing IGF-1R degradation, a process that can be blocked by Grb10	Cheng W.;Huang P.-C.;Chao H.-M.;Jeng Y.-M.;Hsu H.-C.;Pan H.-W.;Wuh-Liang Hwu;Lee Y.-M.; Cheng W.; Huang P.-C.; Chao H.-M.; Jeng Y.-M.; Hsu H.-C.; Pan H.-W.; WUH-LIANG HWU; Lee Y.-M.
臺大學術典藏	2020-12-16T02:25:17Z	The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease	Kishnani P.S.; Burton B.K.;Kronn D.F.;Wuh-Liang Hwu;Kishnani P.S.; Burton B.K.; Kronn D.F.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:17Z	Management of confirmed newborn-screened patients with pompe disease across the disease spectrum	Kronn D.F.;Day-Salvatore D.;Wuh-Liang Hwu;Jones S.A.;Nakamura K.;Okuyama T.;Swoboda K.J.;Kishnani P.S.; Kronn D.F.; Day-Salvatore D.; WUH-LIANG HWU; Jones S.A.; Nakamura K.; Okuyama T.; Swoboda K.J.; Kishnani P.S.
臺大學術典藏	2020-12-16T02:25:17Z	Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease	Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.;Tsai F.-J.;Koeberl D.D.;Tsai W.-H.;Chiu P.-C.;Chang C.-L.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L.
臺大學術典藏	2020-12-16T02:25:17Z	Gene therapy with modified U1 small nuclear RNA	Wuh-Liang Hwu;Lee Y.-M.;Lee N.-C.; WUH-LIANG HWU; Lee Y.-M.; Lee N.-C.
臺大學術典藏	2020-12-16T02:25:16Z	Newborn screening for severe combined immunodeficiency in Taiwan	Chien Y.-H.;Yu H.-H.;Lee N.-C.;Ho H.-C.;Kao S.-M.;Lu M.-Y.;Jaing T.-H.;Lee W.-I.;Chang K.-W.;Shieh C.-C.;Chen J.-S.;Chiang S.-C.;Liu C.-C.;Wuh-Liang Hwu; Chien Y.-H.; Yu H.-H.; Lee N.-C.; Ho H.-C.; Kao S.-M.; Lu M.-Y.; Jaing T.-H.; Lee W.-I.; Chang K.-W.; Shieh C.-C.; Chen J.-S.; Chiang S.-C.; Liu C.-C.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:16Z	Introduction to the newborn screening, diagnosis, and treatment for pompe disease guidance supplement	Kishnani P.S.;Wuh-Liang Hwu; Kishnani P.S.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:16Z	A Review of Biomarkers for Alzheimer’s Disease in Down Syndrome	Lee N.-C.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chien Y.-H.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:16Z	Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening	Chien Y.-H.;Chiang S.-C.;Weng W.-C.;Lee N.-C.;Lin C.-J.;Hsieh W.-S.;Lee W.-T.;Jong Y.-J.;Ko T.-M.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Weng W.-C.; Lee N.-C.; Lin C.-J.; Hsieh W.-S.; Lee W.-T.; Jong Y.-J.; Ko T.-M.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:15Z	Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening	Liu S.-Y.;Lee C.-T.;Tung Y.-C.;Chien Y.-H.;Wuh-Liang Hwu;Tsai W.-Y.; Liu S.-Y.; Lee C.-T.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU; Tsai W.-Y.
臺大學術典藏	2020-12-16T02:25:15Z	Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan	Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.;Li M.-H.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C.; Li M.-H.
臺大學術典藏	2020-12-16T02:25:15Z	Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial	Tai C.-H.; Chien Y.-H.;Lee N.-C.;Tseng S.-H.;Tai C.-H.;Muramatsu S.-I.;Byrne B.J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tseng S.-H.; Muramatsu S.-I.; Byrne B.J.; WUH-LIANG HWU
臺大學術典藏	2020-12-16T02:25:14Z	Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)	Lin H.-Y.;Chuang C.-K.;Chen M.-R.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Lin S.-P.
臺大學術典藏	2020-12-16T02:25:14Z	Management of Leigh syndrome: Current status and new insights	Chen L.;Cui Y.;Jiang D.;Ma C.Y.;Tse H.-F.;Wuh-Liang Hwu;Lian Q.; Chen L.; Cui Y.; Jiang D.; Ma C.Y.; Tse H.-F.; WUH-LIANG HWU; Lian Q.

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