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Article

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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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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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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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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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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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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Article

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

Alglucosidase alfa in infants and children with rapidly progressive pompe disease

Congrès international de myologie 2008 (International Congress of Myology 2008; 26-30 mai 2008; Marseille, France) ; Nicolino M ; Byrne B ; Hwu WL ; Leslie N ; Mandel H ; Wraith J ; Kishnani P | 2008

Pompe disease is caused by a deficiency of acid alpha-glucosidase (GAA). Severe GAA deficiency manifests during infancy with rapidly progressing muscle weakness and cardiomyopathy. Most patients die by age 1 year. Two open-label studies (S1 and [...]

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Article

Clinical Therapeutics Alglucosidase alfa (myozyme(r)) in infants and children with rapidly progressive Pompe disease

Steps Forward in Pompe Disease : 2nd European Symposium (09-10 November 2007; Nice, France) ; Corzo D ; Byrne B ; Hwu WL ; Leslie N ; Mandel H ; Nicolino M ; Wraith J ; Morgan C ; Kishnani P | 2008

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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

Clinical Therapeutics Screening of newborns for Pompe disease and/or other lysosomal storage disorders

Steps Forward in Pompe Disease : 2nd European Symposium (09-10 November 2007; Nice, France) ; Bodamer O ; De Jesus V ; Keutzer J ; Zhang K ; Hwu WL ; Mühl A | 2008

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Détail de l'auteur

Auteur Hwu WL

Documents disponibles écrits par cet auteur (32)

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

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

Alglucosidase alfa in infants and children with rapidly progressive pompe disease

Clinical Therapeutics Alglucosidase alfa (myozyme(r)) in infants and children with rapidly progressive Pompe disease

Clinical Therapeutics Screening for Pompe disease and Fabry disease

Clinical Therapeutics Screening of newborns for Pompe disease and/or other lysosomal storage disorders