| 臺大學術典藏 |
2020-12-16T02:25:49Z |
Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study
|
Pineda M.;Wraith J.E.;Mengel E.;Sedel F.;Wuh-Liang Hwu;Rohrbach M.;Bembi B.;Walterfang M.;Korenke G.C.;Marquardt T.;Luzy C.;Giorgino R.;Patterson M.C.; Pineda M.; Wraith J.E.; Mengel E.; Sedel F.; WUH-LIANG HWU; Rohrbach M.; Bembi B.; Walterfang M.; Korenke G.C.; Marquardt T.; Luzy C.; Giorgino R.; Patterson M.C. |
| 臺大學術典藏 |
2020-12-16T02:25:49Z |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:48Z |
A validated disease severity scoring system for adults with type 1 Gaucher disease
|
Weinreb N.J.;Cappellini M.D.;Cox T.M.;Giannini E.H.;Grabowski G.A.;Wuh-Liang Hwu;Mankin H.;Martins A.M.;Sawyer C.;Vom Dahl S.;Yeh M.S.;Zimran A.; Weinreb N.J.; Cappellini M.D.; Cox T.M.; Giannini E.H.; Grabowski G.A.; WUH-LIANG HWU; Mankin H.; Martins A.M.; Sawyer C.; Vom Dahl S.; Yeh M.S.; Zimran A. |
| 臺大學術典藏 |
2020-12-16T02:25:48Z |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan
|
Lin H.-Y.;Chen M.-R.;Chuang C.-K.;Chen C.-P.;Lin D.-S.;Chien Y.-H.;Ke Y.-Y.;Tsai F.-J.;Pan H.-P.;Lin S.-J.;Wuh-Liang Hwu;Niu D.-M.;Lee N.-C.;Lin S.-P.; Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:48Z |
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
|
Niu D.-M.;Chien Y.-H.;Chiang C.-C.;Ho H.-C.;Wuh-Liang Hwu;Kao S.-M.;Chiang S.-H.;Kao C.-H.;Liu T.-T.;Chiang H.;Hsiao K.-J.; Niu D.-M.; Chien Y.-H.; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:47Z |
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency
|
Chang K.-L.;Wuh-Liang Hwu;Yeh H.-Y.;Lee N.-C.;Chien Y.-H.; Chang K.-L.; WUH-LIANG HWU; Yeh H.-Y.; Lee N.-C.; Chien Y.-H. |
| 臺大學術典藏 |
2020-12-16T02:25:47Z |
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome
|
Hsu C.-J.; WUH-LIANG HWU; Su Y.-N.; Yeh P.-L.; Chen P.-J.; Lu Y.-C.; Wu C.-C.;Lu Y.-C.;Chen P.-J.;Yeh P.-L.;Su Y.-N.;Wuh-Liang Hwu;Hsu C.-J.; Wu C.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:47Z |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
|
Chen P.W.;Wuh-Liang Hwu;Ho M.C.;Lee N.C.;Chien Y.H.;Ni Y.H.;Lee P.H.; Chen P.W.; WUH-LIANG HWU; Ho M.C.; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H. |
| 臺大學術典藏 |
2020-12-16T02:25:46Z |
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
|
Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.; Lin W.-D.;Chou I.-C.;Lee N.-C.;Wang C.-H.;Wuh-Liang Hwu;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; Lee N.-C.; Wang C.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:46Z |
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
|
Labrousse P.;Chien Y.-H.;Pomponio R.J.;Keutzer J.;Lee N.-C.;Akmaev V.R.;Scholl T.;Wuh-Liang Hwu; Labrousse P.; Chien Y.-H.; Pomponio R.J.; Keutzer J.; Lee N.-C.; Akmaev V.R.; Scholl T.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:46Z |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
|
Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chen C.-A.;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Wuh-Liang Hwu; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; Chen C.-A.; Lin S.-J.; Chiu P.-C.; Huang A.-C.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry
|
Hsu W.-Y.;Lin W.-D.;Wuh-Liang Hwu;Lai C.-C.;Tsai F.-J.; Hsu W.-Y.; Lin W.-D.; WUH-LIANG HWU; Lai C.-C.; Tsai F.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Newborn screening for neuropathic lysosomal storage disorders
|
Wuh-Liang Hwu;Chien Y.-H.;Lee N.-C.; WUH-LIANG HWU; Chien Y.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
|
Brun L.;Ngu L.H.;Keng W.T.;Ch'Ng G.S.;Choy Y.S.;Wuh-Liang Hwu;Lee W.T.;Willemsen M.A.A.P.;Verbeek M.M.;Wassenberg T.;R?Gal L.;Orcesi S.;Tonduti D.;Accorsi P.;Testard H.;Abdenur J.E.;Tay S.;Allen G.F.;Heales S.;Kern I.;Kato M.;Burlina A.;Manegold C.;Hoffmann G.F.;Blau N.; Brun L.; Ngu L.H.; Keng W.T.; Ch'Ng G.S.; Choy Y.S.; WUH-LIANG HWU; Lee W.T.; Willemsen M.A.A.P.; Verbeek M.M.; Wassenberg T.; R?gal L.; Orcesi S.; Tonduti D.; Accorsi P.; Testard H.; Abdenur J.E.; Tay S.; Allen G.F.; Heales S.; Kern I.; Kato M.; Burlina A.; Manegold C.; Hoffmann G.F.; Blau N. |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
|
Cheng K.-H.;Liu M.-Y.;Kao C.-H.;Chen Y.-J.;Hsiao K.-J.;Liu T.-T.;Lin H.-Y.;Huang C.-H.;Chiang C.-C.;Ho H.-J.;Lin S.-P.;Lee N.-C.;Wuh-Liang Hwu;Lin J.-L.;Hung P.-Y.;Niu D.-M.; Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; Lee N.-C.; WUH-LIANG HWU; Lin J.-L.; Hung P.-Y.; Niu D.-M. |
| 臺大學術典藏 |
2020-12-16T02:25:44Z |
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia
|
Fern?Ndez-Irigoyen J.;Santamar?A E.;Chien Y.-H.;Wuh-Liang Hwu;Korman S.H.;Faghfoury H.;Schulze A.;Hoganson G.E.;Stabler S.P.;Allen R.H.;Wagner C.;Mudd S.H.;Corrales F.J.; Fern?ndez-Irigoyen J.; Santamar?a E.; Chien Y.-H.; WUH-LIANG HWU; Korman S.H.; Faghfoury H.; Schulze A.; Hoganson G.E.; Stabler S.P.; Allen R.H.; Wagner C.; Mudd S.H.; Corrales F.J. |
| 臺大學術典藏 |
2020-12-16T02:25:44Z |
Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease
|
Chien Y.-H.;Lee N.-C.;Tsai F.-J.;Chao M.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:44Z |
Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints
|
Lee N.-C.;Chen M.;Ma G.-C.;Lee D.-J.;Wang T.-J.;Ke Y.-Y.;Chien Y.-H.;Wuh-Liang Hwu; Lee N.-C.; Chen M.; Ma G.-C.; Lee D.-J.; Wang T.-J.; Ke Y.-Y.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:44Z |
Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: Implications for therapy
|
Raben N.;Ralston E.;Chien Y.-H.;Baum R.;Schreiner C.;Wuh-Liang Hwu;Zaal K.J.M.;Plotz P.H.; Raben N.; Ralston E.; Chien Y.-H.; Baum R.; Schreiner C.; WUH-LIANG HWU; Zaal K.J.M.; Plotz P.H. |
| 臺大學術典藏 |
2020-12-16T02:25:44Z |
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry
|
Dajnoki A.;Fekete G.;Keutzer J.;Orsini J.J.;De Jesus V.R.;Chien Y.-H.;Wuh-Liang Hwu;Lukacs Z.;M?Hl A.;Zhang X.K.;Bodamer O.; Dajnoki A.; Fekete G.; Keutzer J.; Orsini J.J.; De Jesus V.R.; Chien Y.-H.; WUH-LIANG HWU; Lukacs Z.; M?hl A.; Zhang X.K.; Bodamer O. |
| 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
|
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
|
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?
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
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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
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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
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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
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Chien Y.-H.; Lee N.-C.; Huang P.-H.; Lee W.-T.; Thurberg B.L.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:36Z |
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. |
| 臺大學術典藏 |
2020-12-16T02:25:36Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
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WUH-LIANG HWU; Muramatsu S.-I.; Tseng S.-H.; Tzen K.-Y.; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M. |
| 臺大學術典藏 |
2020-12-16T02:25:35Z |
An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery
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Lee N.-C.; Falk D.J.; Byrne B.J.; Conlon T.J.; Clement N.; Porvasnik S.; Jorgensen M.L.; Potter M.; Erger K.E.; Watson R.; Ghivizzani S.C.; Chiu H.-C.; Chien Y.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:34Z |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
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Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Weng W.-C.; Peng S.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; WUH-LIANG HWU; Lee N.-C. |
| 臺大學術典藏 |
2020-12-16T02:25:34Z |
Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
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Chiang S.-C.; WUH-LIANG HWU; Lee N.-C.; Hsu L.-W.; Chien Y.-H. |
