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Auteur Chien YH

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Genetics in medicine : official journal of the American College of Medical Genetics CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening

Weng WC ; Hsu YK ; Chang FM ; Lin CY ; Hwu WL ; Lee WT ; Lee NC ; Chien YH | United States | 09/10/2020

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International journal of neonatal screening, 6, 2. The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan

Chiang SC ; Chien YH ; Chang KL ; Lee NC ; Hwu WL | 01/04/2020

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Article

Molecular genetics and metabolism reports, 23. Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences

Chien YH ; Tsai WH ; Chang CL ; Chiu PC ; Chou YY ; Tsai FJ ; Wong SL ; Lee NC ; Hwu WL | 2020

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Article

Neuromuscular disorders : NMD, 29, 11. Clinical features of Pompe disease with motor neuronopathy

Tsai LK, Auteur ; Hwu WL ; Lee NC ; Huang PH ; Chien YH | England | 11/2019

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Annals of translational medicine, 7, 13. Newborn screening: Taiwanese experience

Chien YH, Auteur ; Hwu WL ; Lee NC | China | 07/2019

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Article

Human mutation GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Reuser AJJ, Auteur ; van der Ploeg AT ; Chien YH ; Llerena J Jr ; Abbott MA ; Clemens PR ; Kimonis VE ; Leslie N ; Maruti SS ; Sanson BJ ; Araujo R ; Periquet M ; Toscano A ; Kishnani PS ; On Behalf Of The Pompe Registry Sites | United States | 07/2019

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Article

International journal of neonatal screening, 4, 4. Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

Chiang SC ; Chen PW ; Hwu WL ; Lee AJ ; Chen LC ; Lee NC ; Chiou LY ; Chien YH | 18/12/2018

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Article

European journal of neurology, 25, 10. Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment?

Chien YH, Auteur ; Lee NC ; Hwu WL ; Fang JY | 10/2018

Comment on: European consensus for starting and stopping enzyme replacement therapy in adult patients with Pompe disease: a 10-year experience. [Eur J Neurol. 2017]

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Article

Molecular neurobiology, 55, 6. A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice

Lee NC, Auteur ; Hwu WL ; Muramatsu SI ; Falk DJ ; Byrne BJ ; Cheng CH ; Shih NC ; Chang KL ; Tsai LK ; Chien YH | 2018

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Article

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 21, 3. Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease

Zeng YT, Auteur ; Hwu WL ; Torng PC ; Lee NC ; Shieh JY ; Lu L ; Chien YH | 2017

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Article

Orphanet journal of rare diseases, 11, 1. Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

Peng SS, Auteur ; Hwu WL ; Lee NC ; Tsai FJ ; Tsai WH ; Chien YH | 2016

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Article

The Journal of pediatrics, 166, 4. Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth

Chien YH ; Lee NC ; Chen CA ; Tsai FJ ; Tsai WH ; Shieh JY ; Huang HJ ; Hsu WC ; Tsai TH ; Hwu WL | 2015

Comment in: Newborn screening + enzyme replacement therapy = improved lysosomal storage disorder: outcomes in infantile-onset Pompe disease. Andersson HC. J Pediatr. 2015 Apr;166(4):800-1.

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Article

Pediatric neurology, 46, 3. Early pathologic changes and responses to treatment in patients with later-onset Pompe disease

Chien YH ; Lee NC ; Huang PH ; Lee WT ; Thurberg BL ; Hwu WL | 2012

Accès au résumé PubMed / to PubMed abstract

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Journal of pediatrics (The), 158, 6,.e1. Later-onset Pompe disease : early detection and early treatment initiation enabled by newborn screening

Chien YH ; Lee NC ; Huang HJ ; Thurberg BL ; Tsai FJ ; Hwu WL | 2011

Accès au résumé PubMed / to PubMed abstract

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Article

Molecular genetics and metabolism, 101, 4. Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease : implications for therapy

Raben N ; Ralston E ; Chien YH ; Baum R ; Schreiner C ; Hwu WL ; Zaal KJM ; Plotz PH | 2010

Accès au résumé PubMed / to PubMed abstract

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Pediatrics Pompe disease in infants : improving the prognosis by newborn screening and early treatment

Chien YH ; Lee NC ; Thurberg BL ; Chiang SC ; Zhang XK ; Keutzer J ; Huang AC ; Wu MH ; Huang PH ; Tsai FJ ; Chen YT ; Hwu WL | 2009

Accès au résumé PubMed / to PubMed abstract

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Article

Pediatrics Early detection of Pompe disease by newborn screening Is feasible : results from the Taiwan screening program

Chien YH ; Chiang SC ; Zhang XK ; Keutzer J ; Lee NC ; Huang AC ; Chen CA ; Wu MH ; Huang PH ; Tsai FJ ; Chen YT ; Hwu WL | 07/2008

Accès au résumé PubMed / to PubMed abstract 04/08/2008 - Un test à grande échelle à Taïwan pour le dépistage néonatal de la maladie de Pompe La maladie de Pompe est une des myopathies métaboliques les plus fréquentes et peut revêti[...]

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Article

Clinical Therapeutics Screening for Pompe disease and Fabry disease

Hwu WL ; Chien YH ; Lee NC | 2008

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Article

Neurology, 68, 2. Recombinant human acid alpha-glucosidase. Major clinical benefits in infantile-onset Pompe disease

Kishnani PS ; Corzo D ; Nicolino M ; Byrne B ; Mandel H ; Hwu WL ; Leslie N ; Spencer C ; Li J ; Dumontier J ; Halberthal M ; Chien YH ; Hopkin R ; Vijayaraghavan S ; Gruskin D ; Bartholomew D ; van der Ploeg A ; Clancy JP ; Parini R ; Morin G ; Beck M ; Jokic M ; Thurberg B ; Richards S ; Bali D ; Davison MD ; Worden MA ; Chen YT ; Wraith JE | 2007

Accès au résumé PubMed / to PubMed abstract 23/01/2007 - Efficacité de l’enzymothérapie substitutive précoce chez de jeunes patients atteints de la maladie de Pompe infantile. La glycogénose de type II, aussi appelée déficit en maltase[...]

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Article

Pediatric research, 60, 3. Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy

Chien YH ; Lee NC ; Peng SF ; Hwu WL | 2006

Accès au résumé PubMed / to PubMed abstract

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Autophagy, 3, 6. Deconstructing Pompe disease by analyzing single muscle fibers. To see a world in a grain of sand...

Raben N ; Takikita S ; Pittis MG ; Bembi B ; Marie SKN ; Roberts A ; Page L ; Kishnani PS ; Schoser BGH ; Chien YH ; Ralston E ; Nagaraju K ; Plotz PH | 11-12/2007

Accès au résumé PubMed / to PubMed abstract

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Détail de l'auteur

Auteur Chien YH

Documents disponibles écrits par cet auteur (21)

Genetics in medicine : official journal of the American College of Medical Genetics CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening

International journal of neonatal screening, 6, 2. The Timely Needs for Infantile Onset Pompe Disease Newborn Screening-Practice in Taiwan

Molecular genetics and metabolism reports, 23. Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences

Neuromuscular disorders : NMD, 29, 11. Clinical features of Pompe disease with motor neuronopathy

Annals of translational medicine, 7, 13. Newborn screening: Taiwanese experience

Human mutation GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

International journal of neonatal screening, 4, 4. Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

European journal of neurology, 25, 10. Disease progression in a pre-symptomatically treated patient with juvenile-onset Pompe disease - need for an earlier treatment?

Molecular neurobiology, 55, 6. A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 21, 3. Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease

Orphanet journal of rare diseases, 11, 1. Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

The Journal of pediatrics, 166, 4. Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth

Pediatric neurology, 46, 3. Early pathologic changes and responses to treatment in patients with later-onset Pompe disease

Journal of pediatrics (The), 158, 6,.e1. Later-onset Pompe disease : early detection and early treatment initiation enabled by newborn screening

Molecular genetics and metabolism, 101, 4. Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease : implications for therapy

Pediatrics Pompe disease in infants : improving the prognosis by newborn screening and early treatment

Pediatrics Early detection of Pompe disease by newborn screening Is feasible : results from the Taiwan screening program

Clinical Therapeutics Screening for Pompe disease and Fabry disease

Neurology, 68, 2. Recombinant human acid alpha-glucosidase. Major clinical benefits in infantile-onset Pompe disease

Pediatric research, 60, 3. Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy

Autophagy, 3, 6. Deconstructing Pompe disease by analyzing single muscle fibers. To see a world in a grain of sand...