| 臺大學術典藏 |
2020-12-16T02:25:43Z |
Congenital hypopituitarism due to POU1F1 gene mutation
|
Lee N.-C.;Tsai W.-Y.;Peng S.-F.;Tung Y.-C.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Tsai W.-Y.; Peng S.-F.; Tung Y.-C.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:43Z |
Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening
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Chien Y.-H.;Lee N.-C.;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:43Z |
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease
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Chien Y.-H.;Olivova P.;Zhang X.K.;Chiang S.-C.;Lee N.-C.;Keutzer J.;Wuh-Liang Hwu; Chien Y.-H.; Olivova P.; Zhang X.K.; Chiang S.-C.; Lee N.-C.; Keutzer J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:43Z |
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
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Auray-Blais C.;Ntwari A.;Clarke J.T.R.;Warnock D.G.;Oliveira J.P.;Young S.P.;Millington D.S.;Bichet D.G.;Sirrs S.;West M.L.;Casey R.;Wuh-Liang Hwu;Keutzer J.M.;Zhang X.K.;Gagnon R.; Auray-Blais C.; Ntwari A.; Clarke J.T.R.; Warnock D.G.; Oliveira J.P.; Young S.P.; Millington D.S.; Bichet D.G.; Sirrs S.; West M.L.; Casey R.; WUH-LIANG HWU; Keutzer J.M.; Zhang X.K.; Gagnon R. |
| 臺大學術典藏 |
2020-12-16T02:25:42Z |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
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Peng S.S.-F.;Chien Y.-H.;Wuh-Liang Hwu;Liu H.-M.;Tseng I.W.-Y.; Peng S.S.-F.; Chien Y.-H.; WUH-LIANG HWU; Liu H.-M.; Tseng I.W.-Y. |
| 臺大學術典藏 |
2020-12-16T02:25:42Z |
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
|
Mchugh D.M.S.;Cameron C.A.;Abdenur J.E.;Abdulrahman M.;Adair O.;Al Nuaimi S.A.;?Hlman H.;Allen J.J.;Antonozzi I.;Archer S.;Au S.;Auray-Blais C.;Baker M.;Bamforth F.;Beckmann K.;Pino G.B.;Berberich S.L.;Binard R.;Boemer F.;Bonham J.;Breen N.N.;Bryant S.C.;Caggana M.;Caldwell S.G.;Camilot M.;Campbell C.;Carducci C.;Cariappa R.;Carlisle C.;Caruso U.;Cassanello M.;Castilla A.M.;Ramos D.E.C.;Chakraborty P.;Chandrasekar R.;Ramos A.C.;Cheillan D.;Chien Y.-H.;Childs T.A.;Chrastina P.;Sica Y.C.;Cocho De Juan J.A.;Colandre M.E.;Espinoza V.C.;Corso G.;Currier R.;Cyr D.;Czuczy N.;D'Apolito O.;Davis T.;De Sain-Van Der Velden M.G.;Pecellin C.D.;Di Gangi I.M.;Di Stefano C.M.;Dotsikas Y.;Downing M.;Downs S.M.;Dy B.;Dymerski M.;Rueda I.;Elvers B.;Eaton R.;Eckerd B.M.;El Mougy F.;Eroh S.;Espada M.;Evans C.;Fawbush S.;Fijolek K.F.;Fisher L.;Franzson L.;Frazier D.M.;Garcia L.R.C.;Bermejo M.S.G.-V.;Gavrilov D.;Gerace R.;Giordano G.;Irazabal Y.G.;Greed L.C.;Grier R.;Grycki E.;Gu X.;Gulamali-Majid F.;Hagar A.F.;Han L.;Hannon W.H.;Haslip C.;Hassan F.A.;He M.;Hietala A.;Himstedt L.;Hoffman G.L.;Hoffman W.;Hoggatt P.;Hopkins P.V.;Hougaard D.M.;Hughes K.;Hunt P.R.;Wuh-Liang Hwu;Hynes J.;Ibarra-Gonz?Lez I.;Ingham C.A.;Ivanova M.;Jacox W.B.;John C.;Johnson J.P.;J?Nsson J.J.;Karg E.;Kasper D.;Klopper B.;Katakouzinos D.;Khneisser I.;Knoll D.;Kobayashi H.;Koneski R.;Ko?Ich V.;Kouapei R.;Kohlmueller D.;Kremensky I.;La Marca G.;Lavochkin M.;Lee S.-Y.;Lehotay D.C.;Lemes A.;Lepage J.;Lesko B.;Lewis B.;Lim C.;Linard S.;Lindner M.;Lloyd-Puryear M.A.;Lorey F.;Loukas Y.L.;Luedtke J.;Maffitt N.;Magee J.F.;Manning A.;Manos S.;Marie S.;Hadachi S.M.;Marquardt G.;Martin S.J.;Matern D.;Gibson S.K.M.;Mayne P.;Mccallister T.D.;Mccann M.;Mcclure J.;Mcgill J.J.;Mckeever C.D.;Mcneilly B.;Morrissey M.A.;Moutsatsou P.;Mulcahy E.A.;Nikoloudis D.;Norgaard-Pedersen B.;Oglesbee D.;Oltarzewski M.;Ombrone D.;Ojodu J.;Papakonstantinou V.;Reoyo S.P.;Park H.-D.;Pasquali M.;Pasquini E.;Patel P.;Pass K.A.;Peterson C.;Pettersen R.D.;Pitt J.J.;Poh S.;Pollak A.;Porter C.;Poston P.A.;Price R.W.;Queijo C.;Quesada J.;Randell E.;Ranieri E.;Raymond K.;Reddic J.E.;Reuben A.;Ricciardi C.;Rinaldo P.;Rivera J.D.;Roberts A.;Rocha H.;Roche G.;Greenberg C.R.;Mellado J.M.E.;Juan-Fita M.J.;Ruiz C.;Ruoppolo M.;Rutledge S.L.;Ryu E.;Saban C.;Sahai I.;Garc?A-Blanco M.I.S.;Santiago-Borrero P.;Schenone A.;Schoos R.;Schweitzer B.;Scott P.;Seashore M.R.;Seeterlin M.A.;Sesser D.E.;Sevier D.W.;Shone S.M.;Sinclair G.;Skrinska V.A.;Stanley E.L.;Strovel E.T.;Jones A.L.S.;Sunny S.;Takats Z.;Tanyalcin T.;Teofoli F.;Thompson J.R.;Tomashitis K.;Domingos M.T.;Torres J.;Torres R.;Tortorelli S.;Turi S.;Turner K.;Tzanakos N.;Valiente A.G.;Vallance H.;Vela-Amieva M.;Vilarinho L.;Von D?Beln U.;Vincent M.-F.;Vorster B.C.;Watson M.S.;Webster D.;Weiss S.;Wilcken B.;Wiley V.;Williams S.K.;Willis S.A.;Woontner M.;Wright K.;Yahyaoui R.;Yamaguchi S.;Yssel M.;Zakowicz W.M.; Norgaard-Pedersen B.; Nikoloudis D.; Lemes A.; Lepage J.; Lesko B.; Lewis B.; Lim C.; Linard S.; Lindner M.; Lloyd-Puryear M.A.; Lorey F.; Loukas Y.L.; Luedtke J.; Maffitt N.; Magee J.F.; Manning A.; Manos S.; Marie S.; Hadachi S.M.; Marquardt G.; Martin S.J.; Matern D.; Gibson S.K.M.; Mayne P.; McCallister T.D.; McCann M.; McClure J.; McGill J.J.; McKeever C.D.; McNeilly B.; Morrissey M.A.; Moutsatsou P.; Mulcahy E.A.; Hannon W.H.; Haslip C.; Hassan F.A.; He M.; Hietala A.; Himstedt L.; Hoffman G.L.; Hoffman W.; Hoggatt P.; Hopkins P.V.; Hougaard D.M.; Hughes K.; Hunt P.R.; WUH-LIANG HWU; Hynes J.; Ibarra-Gonz?lez I.; Ingham C.A.; Ivanova M.; Jacox W.B.; John C.; Johnson J.P.; J?nsson J.J.; Karg E.; Kasper D.; Klopper B.; Katakouzinos D.; Khneisser I.; Knoll D.; Kobayashi H.; Koneski R.; Ko?ich V.; Kouapei R.; Kohlmueller D.; Kremensky I.; La Marca G.; Lavochkin M.; Lee S.-Y.; Lehotay D.C.; McHugh D.M.S.; Cameron C.A.; Abdenur J.E.; Abdulrahman M.; Adair O.; Al Nuaimi S.A.; ?hlman H.; Allen J.J.; Antonozzi I.; Archer S.; Au S.; Auray-Blais C.; Baker M.; Bamforth F.; Beckmann K.; Pino G.B.; Berberich S.L.; Binard R.; Boemer F.; Bonham J.; Breen N.N.; Bryant S.C.; Caggana M.; Caldwell S.G.; Camilot M.; Campbell C.; Carducci C.; Cariappa R.; Carlisle C.; Caruso U.; Cassanello M.; Castilla A.M.; Ramos D.E.C.; Chakraborty P.; Chandrasekar R.; Ramos A.C.; Cheillan D.; Chien Y.-H.; Childs T.A.; Chrastina P.; Sica Y.C.; Cocho De Juan J.A.; Colandre M.E.; Espinoza V.C.; Corso G.; Currier R.; Cyr D.; Czuczy N.; D'Apolito O.; Davis T.; De Sain-Van Der Velden M.G.; Pecellin C.D.; Di Gangi I.M.; Di Stefano C.M.; Dotsikas Y.; Downing M.; Downs S.M.; Dy B.; Dymerski M.; Rueda I.; Elvers B.; Eaton R.; Eckerd B.M.; El Mougy F.; Eroh S.; Espada M.; Evans C.; Fawbush S.; Fijolek K.F.; Fisher L.; Franzson L.; Frazier D.M.; Garcia L.R.C.; Bermejo M.S.G.-V.; Gavrilov D.; Gerace R.; Giordano G.; Irazabal Y.G.; Greed L.C.; Grier R.; Grycki E.; Gu X.; Gulamali-Majid F.; Hagar A.F.; Han L.; Torres J.; Torres R.; Tortorelli S.; Turi S.; Turner K.; Tzanakos N.; Valiente A.G.; Vallance H.; Vela-Amieva M.; Vilarinho L.; Von D?beln U.; Vincent M.-F.; Vorster B.C.; Watson M.S.; Webster D.; Weiss S.; Wilcken B.; Wiley V.; Williams S.K.; Willis S.A.; Woontner M.; Wright K.; Yahyaoui R.; Yamaguchi S.; Yssel M.; Zakowicz W.M.; Oglesbee D.; Oltarzewski M.; Ombrone D.; Ojodu J.; Papakonstantinou V.; Reoyo S.P.; Park H.-D.; Pasquali M.; Pasquini E.; Patel P.; Pass K.A.; Peterson C.; Pettersen R.D.; Pitt J.J.; Poh S.; Pollak A.; Porter C.; Poston P.A.; Price R.W.; Queijo C.; Quesada J.; Randell E.; Ranieri E.; Raymond K.; Reddic J.E.; Reuben A.; Ricciardi C.; Rinaldo P.; Rivera J.D.; Roberts A.; Rocha H.; Roche G.; Greenberg C.R.; Mellado J.M.E.; Juan-Fita M.J.; Ruiz C.; Ruoppolo M.; Rutledge S.L.; Ryu E.; Saban C.; Sahai I.; Garc?a-Blanco M.I.S.; Santiago-Borrero P.; Schenone A.; Schoos R.; Schweitzer B.; Scott P.; Seashore M.R.; Seeterlin M.A.; Sesser D.E.; Sevier D.W.; Shone S.M.; Sinclair G.; Skrinska V.A.; Stanley E.L.; Strovel E.T.; Jones A.L.S.; Sunny S.; Takats Z.; Tanyalcin T.; Teofoli F.; Thompson J.R.; Tomashitis K.; Domingos M.T. |
| 臺大學術典藏 |
2020-12-16T02:25:41Z |
Rapid progressive course of later-onset Pompe disease in Chinese patients
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Jong Y.-J.; WUH-LIANG HWU; Chen S.-S.; Kuo Y.-T.; Lin S.-P.; Chiang S.-C.; Lee N.-C.; Chien Y.-H.; Yang C.-C.; Yang C.-C.;Chien Y.-H.;Lee N.-C.;Chiang S.-C.;Lin S.-P.;Kuo Y.-T.;Chen S.-S.;Jong Y.-J.;Wuh-Liang Hwu |
| 臺大學術典藏 |
2020-12-16T02:25:41Z |
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders - Current status and perspectives
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Reuser A.J.;Verheijen F.W.;Bali D.;Van Diggelen O.P.;Germain D.P.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Olivova P.;Piraud M.;Wuyts B.;Zhang K.;Keutzer J.; Reuser A.J.; Verheijen F.W.; Bali D.; van Diggelen O.P.; Germain D.P.; WUH-LIANG HWU; Lukacs Z.; M?hl A.; Olivova P.; Piraud M.; Wuyts B.; Zhang K.; Keutzer J. |
| 臺大學術典藏 |
2020-12-16T02:25:41Z |
Unusual spinal cord lesions in late-onset non-ketotic hyperglycinemia
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Wei S.-H.;Weng W.-C.;Lee N.-C.;Wuh-Liang Hwu;Lee W.-T.; Wei S.-H.; Weng W.-C.; Lee N.-C.; WUH-LIANG HWU; Lee W.-T. |
| 臺大學術典藏 |
2020-12-16T02:25:41Z |
Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy
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Chen C.-A.;Chien Y.-H.;Wuh-Liang Hwu;Lee N.-C.;Wang J.-K.;Chen L.-R.;Lu C.-W.;Lin M.-T.;Chiu S.-N.;Chiu H.-H.;Wu M.-H.; Chen C.-A.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Wang J.-K.; Chen L.-R.; Lu C.-W.; Lin M.-T.; Chiu S.-N.; Chiu H.-H.; Wu M.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:40Z |
Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010
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Lee W.-I.;Huang J.-L.;Jaing T.-H.;Shyur S.-D.;Yang K.D.;Chien Y.-H.;Chiang B.-L.;Soong W.-J.;Chiou S.-S.;Shieh C.-C.;Lin S.-J.;Yeh K.-W.;Chen L.-C.;Ou L.-S.;Yao T.-C.;Lin T.-Y.;Chiu C.-H.;Huang Y.-C.;Wu K.-H.;Lin C.-Y.;Yu H.-H.;Yang Y.-H.;Yu H.-R.;Yen H.-J.;Hsieh M.-Y.;Kuo M.-L.;Wuh-Liang Hwu;Tsai Y.-C.;Kuo H.-C.;Lin Y.-L.;Shih Y.-F.;Chang K.-W.; Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; Chiang B.-L.; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; WUH-LIANG HWU; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W. |
| 臺大學術典藏 |
2020-12-16T02:25:40Z |
A reliable password-based user authentication scheme for web-based human genome database system
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Chen W.-H.;Wu Z.-Y.;Lai F.;Chien Y.-H.;Wuh-Liang Hwu; Chen W.-H.; Wu Z.-Y.; Lai F.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:40Z |
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
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Huang H.-P.;Chen P.-H.;Wuh-Liang Hwu;Chuang C.-Y.;Chien Y.-H.;Stone L.;Chien C.-L.;Li L.-T.;Chiang S.-C.;Chen H.-F.;Ho H.-N.;Chen C.-H.;Kuo H.-C.; Huang H.-P.; Chen P.-H.; WUH-LIANG HWU; Chuang C.-Y.; Chien Y.-H.; Stone L.; Chien C.-L.; Li L.-T.; Chiang S.-C.; Chen H.-F.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:39Z |
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system
|
Chen S.-T.; Su Y.-N.; Ni Y.-H.; WUH-LIANG HWU; Lee N.-C.; Chien Y.-H.; Chang C.-C.; Chen H.-L.; Chang M.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:39Z |
Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesis
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Yang Y.-S.; Ma G.-C.; Shih J.-C.; Chen C.-P.; Chou C.-H.; Yeh K.-T.; Kuo S.-J.; Chen T.-H.; WUH-LIANG HWU; Lee T.-H.; Chen M. |
| 臺大學術典藏 |
2020-12-16T02:25:39Z |
Preimplantation and prenatal genetic diagnosis of aromatic L-amino aciddecarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction
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Kuo S.-J.;Ma G.-C.;Chang S.-P.;Wu H.-H.;Chen C.-P.;Chang T.-M.;Lin W.-H.;Wu S.-H.;Lee M.-H.;Wuh-Liang Hwu;Chen M.; Kuo S.-J.; Ma G.-C.; Chang S.-P.; Wu H.-H.; Chen C.-P.; Chang T.-M.; Lin W.-H.; Wu S.-H.; Lee M.-H.; WUH-LIANG HWU; Chen M. |
| 臺大學術典藏 |
2020-12-16T02:25:38Z |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Kuo W.-H.; Lin P.-H.; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; Cheng A.-L.; Hsieh F.-J.; WUH-LIANG HWU; Chang K.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:38Z |
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation
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Li S.-C.; WUH-LIANG HWU; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:38Z |
IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice
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Tsai L.-K.; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; WUH-LIANG HWU; Cheng S.H.; Passini M.A. |
| 臺大學術典藏 |
2020-12-16T02:25:38Z |
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
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Chien Y.H.; Lee N.C.; Chiang S.C.; Desnick R.J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:37Z |
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome
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Wang S.-H.; Wu C.-C.; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; WUH-LIANG HWU; Yu I.-S.; Hsu C.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:37Z |
Expert recommendations for the laboratory diagnosis of MPS VI
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Wood T.; Bodamer O.A.; Burin M.G.; D'Almeida V.; Fietz M.; Giugliani R.; Hawley S.M.; Hendriksz C.J.; WUH-LIANG HWU; Ketteridge D.; Lukacs Z.; Mendelsohn N.J.; Miller N.; Pasquali M.; Schenone A.; Schoonderwoerd K.; Winchester B.; Harmatz P. |
| 臺大學術典藏 |
2020-12-16T02:25:37Z |
Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax
|
Yeang C.-H.; Ma G.-C.; Shih J.-C.; Yang Y.-S.; Chen C.-P.; Chang S.-P.; Wu S.-H.; Liu C.-S.; Kuo S.-J.; Chou H.-C.; WUH-LIANG HWU; Cameron A.D.; Ginsberg N.A.; Lin Y.-S.; Chen M. |
| 臺大學術典藏 |
2020-12-16T02:25:37Z |
PSORS2 is due to mutations in CARD14
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Jordan C.T.; Cao L.; Roberson E.D.O.; Pierson K.C.; Yang C.-F.; Joyce C.E.; Ryan C.; Duan S.; Helms C.A.; Liu Y.; Chen Y.; McBride A.A.; WUH-LIANG HWU; Wu J.-Y.; Chen Y.-T.; Menter A.; Goldbach-Mansky R.; Lowes M.A.; Bowcock A.M. |
| 臺大學術典藏 |
2020-12-16T02:25:37Z |
Early pathologic changes and responses to treatment in patients with later-onset Pompe disease
|
Chien Y.-H.; Lee N.-C.; Huang P.-H.; Lee W.-T.; Thurberg B.L.; WUH-LIANG HWU |
