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Muscle & Nerve, 68, 2. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study

Crawford TO ; Swoboda KJ ; de Vivo DC ; Bertini E ; Hwu WL ; Finkel RS ; Kirschner J ; Kuntz NL ; Nazario AN ; Parsons JA ; Pechmann A ; Ryan MM ; Butterfield RJ ; Topaloglu H ; Ben-Omran T ; Sansone VA ; Jong YJ ; Shu F ; Zhu C ; Raynaud S ; Lago TR ; Paradis AD ; Foster R ; Chin R ; Berger Z | 08/2023

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Genetics in medicine : official journal of the American College of Medical Genetics Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease

Hsu YK ; Chien YH ; Shinn-Forng Peng S ; Hwu WL ; Lee WT ; Lee NC ; Po-Yu Huang E ; Weng WC | United States | 17/11/2022

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Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan

Chien YH ; Lee NC ; Weng WC ; Chen LC ; Huang YH ; Wu CS ; Hwu WL | 13/05/2022

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The Journal of pediatrics Outcome of later-onset Pompe disease identified through newborn screening

Lee NC ; Chang KL ; In 't Groen SLM ; de Faria DOS ; Huang HJ ; Pijnappel WWM ; Hwu WL ; Chien YH | United States | 04/01/2022

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Molecular therapy : the journal of the American Society of Gene Therapy Advanced therapeutic strategy for hereditary neuromuscular diseases

Hwu WL ; Muramatsu SI ; Chien YH ; Byrne BJ | United States | 11/12/2021

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Scientific Reports, 11, 1. A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease

Zeng YT ; Liu WY ; Torng PC ; Hwu WL ; Lee NC ; Lin CY ; Chien YH | 22/09/2021

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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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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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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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Neuromuscular disorders : NMD, 29, 11. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

de Vivo DC ; Bertini E ; Swoboda KJ ; Hwu WL ; Crawford TO ; Finkel RS ; Kirschner J ; Kuntz NL ; Parsons JA ; Ryan MM ; Butterfield RJ ; Topaloglu H ; Ben-Omran T ; Sansone VA ; Jong YJ ; Shu F ; Staropoli JF ; Kerr D ; Sandrock AW ; Stebbins C ; Petrillo M ; Braley G ; Johnson K ; Foster R ; Gheuens S ; Bhan I ; Reyna SP ; Fradette S ; Farwell W | England | 09/2019

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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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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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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

Pediatrics, 140, S1. Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement

Kishnani PS, Auteur ; Hwu WL | 2017

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Article

Pediatrics, 140, S1. Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

Kronn DF, Auteur ; Day-Salvatore D ; Hwu WL ; Jones SA ; Nakamura K ; Okuyama T ; Swoboda KJ ; Kishnani PS | 2017

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Article

Pediatrics, 140, S1. The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Burton BK, Auteur ; Kronn DF ; Hwu WL ; Kishnani PS | 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

Neurobiology of disease, 45, 1. IGF-1 delivery to the CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice

Tsai LK ; Chen YC ; Cheng WC ; Ting CH ; Dodge JC ; Hwu WL ; Cheng SH ; Passini MA | 2012

Accès au résumé PubMed / to PubMed abstract

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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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Article

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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Détail de l'auteur

Auteur Hwu WL

Documents disponibles écrits par cet auteur (38)

Muscle & Nerve, 68, 2. Continued benefit of nusinersen initiated in the presymptomatic stage of spinal muscular atrophy: 5-year update of the NURTURE study

Genetics in medicine : official journal of the American College of Medical Genetics Evaluating brain white matter hyperintensity, IQ scores, and plasma neurofilament light chain concentration in early-treated patients with infantile-onset Pompe disease

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan

The Journal of pediatrics Outcome of later-onset Pompe disease identified through newborn screening

Molecular therapy : the journal of the American Society of Gene Therapy Advanced therapeutic strategy for hereditary neuromuscular diseases

Scientific Reports, 11, 1. A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease

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

Neuromuscular disorders : NMD, 29, 11. Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

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

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

Pediatrics, 140, S1. Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement

Pediatrics, 140, S1. Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum

Pediatrics, 140, S1. The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of 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

Neurobiology of disease, 45, 1. IGF-1 delivery to the CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice

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