| 國立成功大學 |
2023 |
Changing clinical manifestations of Gaucher disease in Taiwan
|
Lu, W.-L.;Chien, Y.-H.;Tsai, F.-J.;Hwu, W.-L.;Chou, Y.-Y.;Chu, S.-Y.;Li, M.-J.;Lee, A.-J.;Liao, C.-C.;Wang, C.-H.;Lee, N.-C. |
| 國立成功大學 |
2023 |
Combining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases
|
Chen, Chen C.-B.;Hsu, J.S.;Chen, P.-L.;Wu, J.-F.;Li, H.-Y.;Liou, B.-Y.;Chang, M.-H.;Ni, Y.-H.;Hwu, W.-L.;Chien, Y.-H.;Chou, Y.-Y.;Yang, Yang Y.-J.;Lee, N.-C.;Chen, H.-L. |
| 國立成功大學 |
2023 |
Harnessing polyhydroxylated pyrrolidines as a stabilizer of acid alpha-glucosidase (GAA) to enhance the efficacy of enzyme replacement therapy in Pompe disease
|
Li, H.-Y.;Lee, N.-C.;Chiu, Y.-T.;Chang, Y.-W.;Lin, C.-C.;Chou, Chou C.-L.;Chien, Y.-H.;Hwu, W.-L.;Cheng, W.-C. |
| 臺大學術典藏 |
2022-09-06T07:43:53Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Tsai C.-W.; Yang C.-C.; Chen H.-L.; Hwu W.-L.; Wu M.-Z.; Liu K.-L.; MING-SHIANG WU |
| 臺大學術典藏 |
2022-09-06T02:56:09Z |
Duchenne muscular dystrophy newborn screening: the first 50,000 newborns screened in Taiwan
|
YIN-HSIU CHIEN; Lee N.-C.; Weng W.-C.; Chen L.-C.; Huang Y.-H.; Wu C.-S.; Hwu W.-L. |
| 臺大學術典藏 |
2022-09-06T02:56:09Z |
Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3
|
Lee N.-C.; YIN-HSIU CHIEN; Wang C.-H.; Wong S.-L.; Peng S.S.-F.; Tsai F.-J.; Hwu W.-L. |
| 臺大學術典藏 |
2022-09-06T02:56:07Z |
Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test
|
Chen H.-A.; Hsu R.-H.; Chen Y.-H.; Hsu L.-W.; Chiang S.-C.; Lee N.-C.; Hwu W.-L.; Chiu P.-C.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-09-06T02:56:07Z |
High incidence of null variants identified from newborn screening of X-linked adrenoleukodystrophy in Taiwan
|
Chen H.-A.; Hsu R.-H.; Chen P.-W.; Lee N.-C.; Chiu P.-C.; Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-09-06T02:56:06Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; YIN-HSIU CHIEN; Hwu W.-L.; Lai F.P.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:46:04Z |
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
|
Chen C.-A.; Tang N.L.S.; YIN-HSIU CHIEN; Zhang W.-M.; Wang J.-K.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-28T02:46:03Z |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
|
Tsai L.-K.; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; YIN-HSIU CHIEN; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-28T02:46:00Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; YIN-HSIU CHIEN; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:58Z |
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
|
Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; YIN-HSIU CHIEN; Wang Y.-T.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:58Z |
A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease
|
Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; Hwu W.-L.; Lee N.-C.; Lin C.-Y.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-03-28T02:45:57Z |
A novel deep intronic variant strongly associates with Alkaptonuria
|
Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; YIN-HSIU CHIEN; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:54Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen C.-L.; Lee C.-N.; YIN-HSIU CHIEN; Hwu W.-L.; Chang T.-M.; Lee N.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:53Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
Lee N.-C.; Chang K.-L.; in 't Groen S.L.M.; de Faria D.O.S.; Huang H.-J.; Pijnappel W.W.M.P.; Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-03-28T02:45:53Z |
Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
|
Tsai M.-J.M.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tung Y.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:46Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
Tai C.-H.; Lee N.-C.; YIN-HSIU CHIEN; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-10T07:58:52Z |
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
|
Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.-M. |
| 臺大學術典藏 |
2022-03-10T07:58:52Z |
Erratum: Molecular genetic study of Pompe disease in Chinese patients in Taiwan (Human Mutation (1999) 13 (380-384))
|
Ko T.-M.; Hwu W.-L.; Lin Y.-W.; LI-HUI TSENG; Hwa H.-L.; Wang T.-R.; Chuang S.- M.; Hayashi K. |
| 臺大學術典藏 |
2022-03-10T03:55:03Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:02Z |
RNA-seq of peripheral blood mononuclear cells of congenital generalized lipodystrophy type 2 patients
|
Huang Y.-H.; Su T.-C.; Wang C.-H.; Wong S.-L.; Chien Y.-H.; Wang Y.-T.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:02Z |
A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease
|
Zeng Y.-T.; Liu W.-Y.; Torng P.-C.; Hwu W.-L.; NI-CHUNG LEE; Lin C.-Y.; Chien Y.-H. |
| 臺大學術典藏 |
2022-03-10T03:55:01Z |
A novel deep intronic variant strongly associates with Alkaptonuria
|
Lai C.-Y.; Tsai I.-J.; Chiu P.-C.; Ascher D.B.; Chien Y.-H.; Huang Y.-H.; Lin Y.-L.; Hwu W.-L.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:01Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen C.-L.; Lee C.-N.; Chien Y.-H.; Hwu W.-L.; Chang T.-M.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:00Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin Y.-L.; Chang P.-C.; Hsu C.; Hung M.-Z.; Chien Y.-H.; Hwu W.-L.; Lai F.P.; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-03-10T03:55:00Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
Tai C.-H.; NI-CHUNG LEE; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-10T02:31:40Z |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Kuo W.-H.; PO-HAN LIN; Huang A.-C.; Chien Y.-H.; Liu T.-P.; Lu Y.-S.; Bai L.-Y.; Sargeant A.M.; Lin C.-H.; Cheng A.-L.; Hsieh F.-J.; Hwu W.-L.; Chang K.-J. |
| 臺大學術典藏 |
2022-03-04T03:48:03Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
Lin S.-Y.; Chuang G.-T.; Hung C.-H.; WEI-CHOU LIN; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C. |
| 臺大學術典藏 |
2022-02-14T07:10:50Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; YUNG-MING JENG; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; Tsai I.-J.; Lee N.-C. |
| 臺大學術典藏 |
2022-01-25T03:25:02Z |
REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample
|
Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; CHI-LING CHEN; Hwu W.-L.; Lee P.-L. |
| 臺大學術典藏 |
2021-12-16T06:28:32Z |
MRI in a case of adult-onset citrullinemia
|
YA-FANG CHEN; Huang, Y C; Liu, H M; Hwu, W L |
| 臺大學術典藏 |
2021-11-26T05:56:53Z |
Adenoviral interneuronal transportation after retrograde gene transfer in mice
|
LI-KAI TSAI; Tsai M.-S.; Shyue S.-K.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2021-11-26T05:56:53Z |
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy
|
LI-KAI TSAI; Tsai M.-S.; Lin T.-B.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2021-11-26T05:56:52Z |
Valproic acid treatment in six patients with spinal muscular atrophy [5]
|
LI-KAI TSAI; Yang C.-C.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2021-11-26T05:56:52Z |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
|
Chien Y.H.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L. |
| 臺大學術典藏 |
2021-11-26T05:56:51Z |
Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy
|
LI-KAI TSAI; Yang C.-C.; Ting C.-H.; Su Y.-N.; Hwu W.-L.; Li H. |
| 臺大學術典藏 |
2021-11-26T05:56:51Z |
Myopathy in Gaucher disease
|
LI-KAI TSAI; Chien Y.-H.; Yang C.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2021-11-26T05:56:48Z |
IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice
|
LI-KAI TSAI; Chen Y.-C.; Cheng W.-C.; Ting C.-H.; Dodge J.C.; Hwu W.-L.; Cheng S.H.; Passini M.A. |
| 臺大學術典藏 |
2021-11-26T05:56:47Z |
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
|
Chien Y.H.; Peng S.F.; Yang C.C.; Lee N.C.; LI-KAI TSAI; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L. |
| 臺大學術典藏 |
2021-11-26T05:56:44Z |
Systemic administration of a recombinant AAV1 vector encoding IGF-1 improves disease manifestations in SMA mice
|
LI-KAI TSAI; Chen C.-L.; Ting C.-H.; Lin-Chao S.; Hwu W.-L.; Dodge J.C.; Passini M.A.; Cheng S.H. |
| 臺大學術典藏 |
2021-11-26T05:56:40Z |
Hypothermia improves disease manifestations in SMA mice via SMN augmentation
|
LI-KAI TSAI; Chen C.-L.; Tsai Y.-C.; Ting C.-H.; Chien Y.-H.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2021-11-26T05:56:32Z |
A Neuron-Specific Gene Therapy Relieves Motor Deficits in Pompe Disease Mice
|
Lee N.-C.; Hwu W.-L.; Muramatsu S.-I.; Falk D.J.; Byrne B.J.; Cheng C.-H.; Shih N.-C.; Chang K.-L.; LI-KAI TSAI; Chien Y.-H. |
| 臺大學術典藏 |
2021-11-26T05:56:29Z |
Electrical abnormalities in dopaminergic neurons of the substantia nigra in mice with an aromatic L-amino acid decarboxylase deficiency
|
Ho S.-Y.; Chien Y.-H.; LI-KAI TSAI; Muramatsu S.-I.; Hwu W.-L.; Liou H.-H.; Lee N.-C. |
| 臺大學術典藏 |
2021-11-26T05:56:27Z |
Clinical features of Pompe disease with motor neuronopathy
|
LI-KAI TSAI; Hwu W.-L.; Lee N.-C.; Huang P.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2021-11-26T05:56:19Z |
Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice
|
Lee N.-C.; Peng W.-H.; LI-KAI TSAI; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; Chien Y.-H. |
| 臺大學術典藏 |
2021-10-06T08:04:49Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; Fan P.-C.; I-JUNG TSAI; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C. |
| 臺大學術典藏 |
2021-10-06T08:04:48Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
Lin S.-Y.; Chuang G.-T.; Hung C.-H.; Lin W.-C.; Jeng Y.-M.; Yen T.-A.; Chang K.; Chien Y.-H.; Hwu W.-L.; Lee C.-N.; I-JUNG TSAI; Lee N.-C. |
| 臺大學術典藏 |
2021-10-04T05:53:44Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Wu E.-T.; Hwu W.-L.; Chien Y.-H.; Hsu C.; Chen T.-F.; Chen N.-Q.; Chou H.-C.; Tsao P.-N.; PI-CHUAN FAN; Tsai I.-J.; Lin S.-P.; Hsieh W.-S.; Chang T.-M.; Chen C.-N.; Lee C.-H.; Chou Y.-Y.; Chiu P.-C.; Tsai W.-H.; Hsiung H.-C.; Lai F.; Lee N.-C. |
