Hakutulokset - 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 Tekijä Wuh‐Liang Hwu

    Julkaistu 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 Tekijä Yin‐Hsiu Chien, Wuh‐Liang Hwu, Ni‐Chung Lee

    Julkaistu 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 Tekijä Roberto Giugliani, Wuh‐Liang Hwu, Anna Tylki‐Szymańska, David Whiteman, Arian Pano

    Julkaistu 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 Tekijä Yin‐Hsiu Chien, Ni‐Chung Lee, Steven Shinn‐Forng Peng, Wuh‐Liang Hwu

    Julkaistu 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 Tekijä Shu-Chuan Chiang, Wuh‐Liang Hwu, Ni‐Chung Lee, Li‐Wen Hsu, Yin‐Hsiu Chien

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

    Julkaistu 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 Tekijä David F. Kronn, Debra Day‐Salvatore, Wuh‐Liang Hwu, Simon Jones, Kimitoshi Nakamura, Torayuki Okuyama, Kathryn J. Swoboda, Priya S. Kishnani

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

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

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

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

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

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

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

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

    Julkaistu 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 Tekijä Li‐Kai Tsai, Chien‐Lin Chen, Chen-Hung Ting, Sue Lin‐Chao, Wuh‐Liang Hwu, James C. Dodge, Marco A. Passini, Seng H. Cheng

    Julkaistu 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 Tekijä Francyne Kubaski, Zackary M. Herbst, Danilo Assis Pereira, Camilo Silva, Christine Chen, Wuh‐Liang Hwu, Hélio van der Linden, Charles Marques Lourenço, Roberto Giugliani

    Julkaistu 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] Tekijä Francyne Kubaski, Zackary M. Herbst, Danilo Assis Pereira, Camilo Silva, Christine Chen, Wuh‐Liang Hwu, Hélio van der Linden, Charles Marques Lourenço, Roberto Giugliani

    Julkaistu 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 Tekijä 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

    Julkaistu 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 Tekijä 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

    Julkaistu 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) Tekijä 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

    Julkaistu 2018
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