检索结果 - Wuh‐Liang Hwu

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  1. 1
    Gene therapy for ultrarare diseases: a geneticist’s perspective

    Gene therapy for ultrarare diseases: a geneticist’s perspective 由 Wuh‐Liang Hwu

    出版 2024
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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 由 Yin‐Hsiu Chien, Wuh‐Liang Hwu, Ni‐Chung Lee

    出版 2013
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  3. 3
    A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4–7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy

    A multicenter, open-label study evaluating safety and clinical outcomes in children (1.4–7.5 years) with Hunter syndrome receiving idursulfase enzyme replacement therapy 由 Roberto Giugliani, Wuh‐Liang Hwu, Anna Tylki‐Szymańska, David Whiteman, Arian Pano

    出版 2013
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  4. 4
    Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy

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

    出版 2006
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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 由 Shu-Chuan Chiang, Wuh‐Liang Hwu, Ni‐Chung Lee, Li‐Wen Hsu, Yin‐Hsiu Chien

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

    出版 2012
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  7. 7
    Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

    Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum 由 David F. Kronn, Debra Day‐Salvatore, Wuh‐Liang Hwu, Simon Jones, Kimitoshi Nakamura, Torayuki Okuyama, Kathryn J. Swoboda, Priya S. Kishnani

    出版 2017
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  8. 8
    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 由 Nina Raben, Evelyn Ralston, Yin‐Hsiu Chien, Rebecca Baum, Cynthia Schreiner, Wuh‐Liang Hwu, Kristien J.M. Zaal, Paul H. Plötz

    出版 2010
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  9. 9
    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 由 Yin‐Hsiu Chien, Ni‐Chung Lee, Sheng‐Hong Tseng, Chun‐Hwei Tai, Shin‐ichi Muramatsu, Barry J. Byrne, Wuh‐Liang Hwu

    出版 2017
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  10. 10
    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 由 Chun‐Hwei Tai, Ni‐Chung Lee, Yin‐Hsiu Chien, Barry J. Byrne, Shin‐ichi Muramatsu, Sheng‐Hong Tseng, Wuh‐Liang Hwu

    出版 2021
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  11. 11
    Comparison of GATK and DeepVariant by trio sequencing

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

    出版 2022
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  12. 12
    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 由 Erin Feeney, Stephanie Austin, Yin‐Hsiu Chien, Hanna Mandel, Benedikt Schoser, Sean N. Prater, Wuh‐Liang Hwu, Evelyn Ralston, Priya S. Kishnani, Nina Raben

    出版 2014
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  13. 13
    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 由 Jing Wang, Hong Cui, Ni‐Chung Lee, Wuh‐Liang Hwu, Yin‐Hsiu Chien, William J. Craigen, Lee‐Jun C. Wong, Victor Wei Zhang

    出版 2012
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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 由 Wuh‐Liang Hwu, Agathe Roubertie, Yin‐Hsiu Chien, Antonia Wang, Alexis Russell, Ni‐Chung Lee, Pedro Eugenio Pachelli, Andressa Federhen, Chun‐Hwei Tai

    出版 2023
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  15. 15
    Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice

    Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice 由 Li‐Kai Tsai, Chien‐Lin Chen, Chen-Hung Ting, Sue Lin‐Chao, Wuh‐Liang Hwu, James C. Dodge, Marco A. Passini, Seng H. Cheng

    出版 2014
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  16. 16
    Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases

    Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases 由 Francyne Kubaski, Zackary M. Herbst, Danilo Assis Pereira, Camilo Silva, Christine Chen, Wuh‐Liang Hwu, Hélio van der Linden, Charles Marques Lourenço, Roberto Giugliani

    出版 2021
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  17. 17
    Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4]

    Corrigendum to “Evaluation of 3-O-methyldopa as a biomarker for aromatic L-amino acid decarboxylase deficiency in 7 Brazilian cases” [27/100744/2021/ pages: 1-4] 由 Francyne Kubaski, Zackary M. Herbst, Danilo Assis Pereira, Camilo Silva, Christine Chen, Wuh‐Liang Hwu, Hélio van der Linden, Charles Marques Lourenço, Roberto Giugliani

    出版 2022
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  18. 18
    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 由 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

    出版 2023
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  19. 19
    Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency

    Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency 由 Margaret M. McGovern, Carlo Dionisi‐Vici, Roberto Giugliani, Wuh‐Liang Hwu, Olivier Lidove, Zoltán Lukács, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Melissa Wasserstein

    出版 2017
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  20. 20
    Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)

    Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD) 由 Melissa Wasserstein, Carlo Dionisi‐Vici, Roberto Giugliani, Wuh‐Liang Hwu, Olivier Lidove, Zoltán Lukács, Eugen Mengel, Pramod K. Mistry, Edward H. Schuchman, Margaret M. McGovern

    出版 2018
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