| 臺大學術典藏 |
2022-03-28T02:45:56Z |
Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial
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Schoser B.; Roberts M.; Byrne B.J.; Sitaraman S.; Jiang H.; Lafor?t P.; Toscano A.; Castelli J.; D?az-Manera J.; Goldman M.; van der Ploeg A.T.; Bratkovic D.; Kuchipudi S.; Mozaffar T.; Kishnani P.S.; Sebok A.; Pestronk A.; Dominovic-Kovacevic A.; Khan A.; Koritnik B.; Tard C.; Lindberg C.; Quinn C.; Eldridge C.; Bodkin C.; Reyes-Leiva D.; Hughes D.; Stefanescu E.; SALORT-CAMPANA E.; Butler E.; Bouhour F.; Kim G.; Konstantinos Papadimas G.; Parenti G.; Bartosik-Psujek H.; Kushlaf H.; Akihiro H.; Lau H.; Pedro H.; Andersen H.; Amartino H.; Shiraishi H.; Kobayashi H.; Tarnev I.; Vengoechea J.; Avelar J.; Shin J.-H.; Cauci J.; Alonso-P?rez J.; Janszky J.; Berthy J.; Cornelia K.; Gutschmidt K.; Claeys K.; Judit Molnar M.; Wencel M.; Tarnopolsky M.; Dimachkie M.; Tchan M.; Freimer M.; Longo N.; Vidal-Fernandez N.; Musumeci O.; Goker-Alpan O.; Deegan P.; Clemens P.R.; Roxburgh R.; Henderson R.; Hopkin R.; Sacconi S.; Fecarotta S.; Attarian S.; Wenninger S.; Dearmey S.; Hiwot T.; Burrow T.; Ruck T.; Sawada T.; Laszlo V.; L?scher W.; YIN-HSIU CHIEN; PROPEL Study Group |
| 臺大學術典藏 |
2022-03-28T02:45:55Z |
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
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Diaz-Manera J.; Kishnani P.S.; Kushlaf H.; Ladha S.; Mozaffar T.; Straub V.; Toscano A.; van der Ploeg A.T.; Berger K.I.; Clemens P.R.; YIN-HSIU CHIEN; Day J.W.; Illarioshkin S.; Roberts M.; Attarian S.; Borges J.L.; Bouhour F.; Choi Y.C.; Erdem-Ozdamar S.; Goker-Alpan O.; Kostera-Pruszczyk A.; Haack K.A.; Hug C.; Huynh-Ba O.; Johnson J.; Thibault N.; Zhou T.; Dimachkie M.M.; Schoser B.; Behin A.; Boentert M.; Carvalho G.; Chahin N.; Charrow J.; Deegan P.; Durmus Tekce H.; Duval F.; Genge A.; Gutmann L.; Henderson R.D.; Hennermann J.B.; Hiwot T.; Hughes D.; Karaa A.; Karam C.; Kautzky-Willer A.; Komaki H.; Laforet P.; Longo N.; Malinova V.; Mar? R.; Maxit C.; Mengel E.; Moggio M.G.; Moln?r M.J.; Mongini T.E.; Nadaj-Pakleza A.; Nascimento Osorio A.; Noury J.-B.; Oliveira A.S.B.; Parman Y.; Pena L.; Remiche G.; Sciacco M.; Shieh P.B.; Smith C.; Stulnig T.; Taithe F.; Tard C.; Tarnopolsky M.; Vorgerd M.; Whitley C.; Young P.; Alonso-P?rez J.; Altemus P.; Aub?-Nathier A.-C.; Avelar J.B.; Bailey C.; Bekircan-Kurt C.E.; Billy J.; Boschi S.; Brown K.E.; Carrera Garcia L.; Chase L.; Cirne H.; Danjoux L.; Davion J.-B.; DeArmey S.; Fedotova E.; Gandolfo E.; Grosz Z.; Guellec D.; Guettsches A.-K.; Guglieri M.; Hatcher E.; Helms S.; Hufgard-Leitner M.; Klyushnikov S.A.; Langton J.; Linkov? L.; Mavroudakis N.; Mazurov? S.; Mori M.; M?ller-Miny L.; Musumeci O.; Nance C.S.; Natera-de Benito D.; Neel R.; Niizawa G.A.; Noll L.; Ortega E.; Pasnoor M.; Pautot V.; Potulska-Chromik A.; Pugliese A.; Questienne C.; Ramos Lopes M.; Reyes-Leiva D.; Riedl M.; Rugiero M.F.; Salort-Campana E.; Sgobbi Souza P.V.; Sole G.; Solera L.; Souto Lopes S.; Specht S.; Statland J.; Swenson A.; Tan C.Y.; Tizon S.; van der Beek N.A.M.E.; van Kooten H.A.; Wencel M.; Wenninger S.; Zagnoli F.; COMET Investigator Group |
| 臺大學術典藏 |
2020-12-24T06:17:11Z |
Deconstructing pompe disease by analyzing single muscle fibers: To see a world in a grain of sand...
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Raben N.; Takikita S.; Pittis M.G.; Bembi B.; Marie S.K.N.; Roberts A.; Page L.; Kishnani P.S.; Schoser B.G.H.; YIN-HSIU CHIEN; Ralston E.; Nagaraju K.; Plotz P.H. |
| 臺大學術典藏 |
2020-12-24T06:17:11Z |
Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease
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Wraith J.E.; Chen Y.T.; Worden M.A.; Davison M.; Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; Hwu W.L.; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; YIN-HSIU CHIEN; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D. |
| 臺大學術典藏 |
2020-12-24T06:16:38Z |
Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening
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Young S.P.; Kishnani P.S.; Millington D.S.; Vaisnins A.E.; Zhang H.; YIN-HSIU CHIEN; Goldstein J.L.; Hwu W.-L.; Smith P.B.; Lee N.-C.; Chiang S.-C.; Tolun A.A. |
| 臺大學術典藏 |
2020-12-24T06:16:18Z |
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
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Leslie N.; Kimonis V.E.; Clemens P.R.; Abbott M.-A.; Llerena J.; Jr.; YIN-HSIU CHIEN; van der Ploeg A.T.; Reuser A.J.J.; Maruti S.S.; Sanson B.-J.; Araujo R.; Periquet M.; Toscano A.; Kishnani P.S.; on behalf of the Pompe Registry Sites |
| 臺大學術典藏 |
2020-12-16T02:26:05Z |
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
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Kishnani P.S.;Wuh-Liang Hwu;Mandel H.;Nicolino M.;Yong F.;Corzo D.; Kishnani P.S.; WUH-LIANG HWU; Mandel H.; Nicolino M.; Yong F.; Corzo D. |
| 臺大學術典藏 |
2020-12-16T02:26:05Z |
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
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Kishnani P.S.;Wuh-Liang Hwu;Mandel H.;Nicolino M.;Yong F.;Corzo D.; Kishnani P.S.; WUH-LIANG HWU; Mandel H.; Nicolino M.; Yong F.; Corzo D. |
| 臺大學術典藏 |
2020-12-16T02:26:03Z |
Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease
|
Kishnani P.S.;Corzo D.;Nicolino M.;Byrne B.;Mandel H.;Wuh-Liang Hwu;Leslie N.;Levine J.;Spencer C.;Mcdonald M.;Li J.;Dumontier J.;Halberthal M.;Chien Y.H.;Hopkin R.;Vijayaraghavan S.;Gruskin D.;Bartholomew D.;Van Der Ploeg A.;Clancy J.P.;Parini R.;Morin G.;Beck M.;De La Gastine G.S.;Jokic M.;Thurberg B.;Richards S.;Bali D.;Davison M.;Worden M.A.;Chen Y.T.;Wraith J.E.; Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; WUH-LIANG HWU; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; Chien Y.H.; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E. |
| 臺大學術典藏 |
2020-12-16T02:26:03Z |
Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease
|
Kishnani P.S.;Corzo D.;Nicolino M.;Byrne B.;Mandel H.;Wuh-Liang Hwu;Leslie N.;Levine J.;Spencer C.;Mcdonald M.;Li J.;Dumontier J.;Halberthal M.;Chien Y.H.;Hopkin R.;Vijayaraghavan S.;Gruskin D.;Bartholomew D.;Van Der Ploeg A.;Clancy J.P.;Parini R.;Morin G.;Beck M.;De La Gastine G.S.;Jokic M.;Thurberg B.;Richards S.;Bali D.;Davison M.;Worden M.A.;Chen Y.T.;Wraith J.E.; Kishnani P.S.; Corzo D.; Nicolino M.; Byrne B.; Mandel H.; WUH-LIANG HWU; Leslie N.; Levine J.; Spencer C.; McDonald M.; Li J.; Dumontier J.; Halberthal M.; Chien Y.H.; Hopkin R.; Vijayaraghavan S.; Gruskin D.; Bartholomew D.; Van Der Ploeg A.; Clancy J.P.; Parini R.; Morin G.; Beck M.; De La Gastine G.S.; Jokic M.; Thurberg B.; Richards S.; Bali D.; Davison M.; Worden M.A.; Chen Y.T.; Wraith J.E. |
| 臺大學術典藏 |
2020-12-16T02:26:00Z |
Newborn screening for pompe disease: Synthesis of the evidence and development of screening recommendations
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Kemper A.R.;Wuh-Liang Hwu;Lloyd-Puryear M.;Kishnani P.S.; Kemper A.R.; WUH-LIANG HWU; Lloyd-Puryear M.; Kishnani P.S. |
| 臺大學術典藏 |
2020-12-16T02:26:00Z |
Newborn screening for pompe disease: Synthesis of the evidence and development of screening recommendations
|
Kemper A.R.;Wuh-Liang Hwu;Lloyd-Puryear M.;Kishnani P.S.; Kemper A.R.; WUH-LIANG HWU; Lloyd-Puryear M.; Kishnani P.S. |
| 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 |
2020-12-16T02:25:24Z |
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 |
2020-12-16T02:25:17Z |
The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease
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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 |
The initial evaluation of patients after positive newborn screening: Recommended algorithms leading to a confirmed diagnosis of pompe disease
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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
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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 |
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 |
2020-12-16T02:25:16Z |
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 |
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 |
2020-12-09T01:38:24Z |
Baseline urinary glucose tetrasaccharide concentrations in patients with infantile- and late-onset pompe disease identified by newborn screening
|
Chien Y.-H.; Goldstein J.L.; Hwu W.-L.; Smith P.B.; NI-CHUNG LEE; 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 |
2014 |
The value of muscle biopsies in Pompe disease: Identifying lipofuscin inclusions in juvenile- and adult-onset patients
|
Raben N.; Ralston E.; Kishnani P.S.; Feeney E.J.; Austin S.; YIN-HSIU CHIEN; Mandel H.; Schoser B.; Prater S.; Hwu W.-L. |
