臺灣學術機構典藏系統 (Taiwan Academic Institutional Repository, TAIR)

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機構	日期	題名	作者
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

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