Search Results - Yin‐Hsiu Chien

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  1. 1
    Antioxidant defence to ammonia stress of characins (Hyphessobrycon eques Steindachner) fed diets supplemented with carotenoids

    Antioxidant defence to ammonia stress of characins (Hyphessobrycon eques Steindachner) fed diets supplemented with carotenoids by Chunli Pan, Yin‐Hsiu Chien, Y.J. Wang

    Published 2010
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  2. 2
    Pompe Disease: Early Diagnosis and Early Treatment Make a Difference

    Pompe Disease: Early Diagnosis and Early Treatment Make a Difference by Yin‐Hsiu Chien, Wuh‐Liang Hwu, Ni‐Chung Lee

    Published 2013
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  3. 3
    Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy

    Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy by Yin‐Hsiu Chien, Ni‐Chung Lee, Steven Shinn‐Forng Peng, Wuh‐Liang Hwu

    Published 2006
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  4. 4
    Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

    Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat by Mark Walterfang, Yin‐Hsiu Chien, Jackie Imrie, Derren Rushton, Danielle Schubiger, Marc C. Patterson

    Published 2012
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  5. 5
    Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program

    Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program by Shu-Chuan Chiang, Wuh‐Liang Hwu, Ni‐Chung Lee, Li‐Wen Hsu, Yin‐Hsiu Chien

    Published 2012
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  6. 6
    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

    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 Commo... by Yin‐Hsiu Chien, Ni‐Chung Lee, Shu-Chuan Chiang, Robert J. Desnick, Wuh‐Liang Hwu

    Published 2012
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  7. 7
    Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

    Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy by Nina Raben, Evelyn Ralston, Yin‐Hsiu Chien, Rebecca Baum, Cynthia Schreiner, Wuh‐Liang Hwu, Kristien J.M. Zaal, Paul H. Plötz

    Published 2010
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  8. 8
    Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial

    Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial by Yin‐Hsiu Chien, Ni‐Chung Lee, Sheng‐Hong Tseng, Chun‐Hwei Tai, Shin‐ichi Muramatsu, Barry J. Byrne, Wuh‐Liang Hwu

    Published 2017
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  9. 9
    Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency

    Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency by Chun‐Hwei Tai, Ni‐Chung Lee, Yin‐Hsiu Chien, Barry J. Byrne, Shin‐ichi Muramatsu, Sheng‐Hong Tseng, Wuh‐Liang Hwu

    Published 2021
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  10. 10
    Comparison of GATK and DeepVariant by trio sequencing

    Comparison of GATK and DeepVariant by trio sequencing by Yilin Lin, Pi-Chuan Chang, Ching Hsu, Miao‐Zi Hung, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Feipei Lai, Ni‐Chung Lee

    Published 2022
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  11. 11
    The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients

    The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients by Erin Feeney, Stephanie Austin, Yin‐Hsiu Chien, Hanna Mandel, Benedikt Schoser, Sean N. Prater, Wuh‐Liang Hwu, Evelyn Ralston, Priya S. Kishnani, Nina Raben

    Published 2014
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  12. 12
    Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin

    Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin by Jing Wang, Hong Cui, Ni‐Chung Lee, Wuh‐Liang Hwu, Yin‐Hsiu Chien, William J. Craigen, Lee‐Jun C. Wong, Victor Wei Zhang

    Published 2012
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  13. 13
    Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency

    Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino Acid decarboxylase deficiency by Wuh‐Liang Hwu, Agathe Roubertie, Yin‐Hsiu Chien, Antonia Wang, Alexis Russell, Ni‐Chung Lee, Pedro Eugenio Pachelli, Andressa Federhen, Chun‐Hwei Tai

    Published 2023
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  14. 14
    Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino acid decarboxylase deficiency

    Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino acid decarboxylase deficiency by Wuh‐Liang Hwu, Agathe Roubertie, Yin‐Hsiu Chien, Ni‐Chung Lee, Antonia Wang, Alexis Russell, Pedro Eugenio Pachelli, Luciana Giugliani, Andressa Federhen, Chun‐Hwei Tai

    Published 2023
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  15. 15
    Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders

    Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders by Ivo Barić, Christian Staufner, Persephone Augoustides‐Savvopoulou, Yin‐Hsiu Chien, Dries Dobbelaere, Sarah C. Grünert, Thomas Opladen, Danijela Petković Ramadža, Bojana Rakić, Anna Wedell, Henk J. Blom

    Published 2016
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  16. 16
    Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences

    Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences by Yin‐Hsiu Chien, Wen-Hui Tsai, Chaw‐Liang Chang, Pao-Chin Chiu, Yen-Yin Chou, Fuu‐Jen Tsai, Siew-Lee Wong, Ni‐Chung Lee, Wuh‐Liang Hwu

    Published 2020
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  17. 17
    Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

    Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns by Yin‐Hsiu Chien, Ni‐Chung Lee, Pin-Wen Chen, Hui-Ying Yeh, Michael H. Gelb, Pao‐Chin Chiu, Shao‐Yin Chu, Chen‐Hao Lee, An-Ru Lee, Wuh‐Liang Hwu

    Published 2020
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  18. 18
    Gene Therapy for Aromatic <scp>l</scp> -Amino Acid Decarboxylase Deficiency

    Gene Therapy for Aromatic <scp>l</scp> -Amino Acid Decarboxylase Deficiency by Wuh‐Liang Hwu, Shin‐ichi Muramatsu, Sheng‐Hong Tseng, Kai‐Yuan Tzen, Ni‐Chung Lee, Yin‐Hsiu Chien, Richard O. Snyder, Barry J. Byrne, Chun‐Hwei Tai, Ruey‐Meei Wu

    Published 2012
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  19. 19
    Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer’s Disease

    Blood Beta-Amyloid and Tau in Down Syndrome: A Comparison with Alzheimer’s Disease by Ni‐Chung Lee, Shieh‐Yueh Yang, Jen-Jie Chieh, Po-Tsang Huang, Lih-Maan Chang, Yen‐Nan Chiu, Ai-Chiu Huang, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Ming‐Jang Chiu

    Published 2017
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  20. 20
    Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry

    Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry by Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Clinton Llerena, Zuhair N. Al‐Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin‐Hsiu Chien

    Published 2023
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