| 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 |
2022-09-15T05:47:52Z |
Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2
|
Hsieh P.-C.; Chen-Chi Wu; Lee N.-C.; Hsieh J.-H.; Liao Y.-H. |
| 臺大學術典藏 |
2022-09-15T02:48:40Z |
A case of GNE myopathy mimicking hereditary motor neuropathy
|
Huang, Y-N; Chuang, H-J; Hsueh, H-W; HSIN-CHIEH HUANG; Lee, N-C; Chao, C-C; HUANG, P-H; Lee, Y-C; Lin, K-P; Yang, C-C; Hsieh, S-T |
| 臺大學術典藏 |
2022-09-15T02:44:08Z |
A case of senile-onset progressive hemiballism and cognitive decline with diffuse brain iron accumulations
|
Lin I.-T.; Lee N.-C.; Fan S.-P.; Huang C.-J.; Cheng P.; Chen J.-H.; CHIN-HSIEN LIN |
| 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 |
2022-03-28T06:27:48Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
Lin T.-W.; Hu Y.-C.; YAO-HSU YANG; Chien Y.-H.; Lee N.-C.; Yu H.-H.; Chiang B.-L.; Wang L.-C. |
| 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 |
2022-03-28T02:46:02Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
Lin T.-W.; Hu Y.-C.; Yang Y.-H.; YIN-HSIU CHIEN; Lee N.-C.; Yu H.-H.; Chiang B.-L.; Wang L.-C. |
| 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 |
2022-03-17T02:52:54Z |
UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis
|
Liao C.-H.; Lee N.-C.; Jou S.-T.; Chiang B.-L.; HSIN-HUI YU |
| 臺大學術典藏 |
2022-03-17T02:52:54Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
Lin T.-W.; Hu Y.-C.; Yang Y.-H.; Chien Y.-H.; Lee N.-C.; HSIN-HUI YU; Chiang B.-L.; Wang L.-C. |
| 臺大學術典藏 |
2022-03-10T02:31:41Z |
Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia
|
Chang K.-C.; PO-HAN LIN; Su Y.-N.; Peng S.S.-F.; Lee N.-C.; Chou H.-C.; Chen C.-Y.; Hsieh W.-S.; Tsao P.-N. |
| 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 |
2022-02-18T06:49:23Z |
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.; WUH-LIANG HWU; Lee C.-N.; Tsai I.-J.; Lee N.-C. |
| 臺大學術典藏 |
2022-02-18T06:49:22Z |
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.; WUH-LIANG HWU; Lee N.-C. |
| 臺大學術典藏 |
2022-02-18T06:49:22Z |
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.; WUH-LIANG HWU; Lee N.-C. |
| 臺大學術典藏 |
2022-02-18T06:49:22Z |
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.; WUH-LIANG HWU; Lee N.-C.; Lin C.-Y.; Chien Y.-H. |
| 臺大學術典藏 |
2022-02-18T06:49:21Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
|
Cho C.-Y.; Tsai W.-Y.; Lee C.-T.; Liu S.-Y.; Huang S.-Y.; Chien Y.-H.; WUH-LIANG HWU; Lee N.-C.; Tung Y.-C. |
| 臺大學術典藏 |
2022-02-18T06:49:21Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen C.-L.; Lee C.-N.; Chien Y.-H.; WUH-LIANG HWU; Chang T.-M.; Lee N.-C. |
| 臺大學術典藏 |
2022-02-18T06:49:20Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
Tai C.-H.; Lee N.-C.; Chien Y.-H.; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-02-15T06:22:51Z |
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy
|
Lin C.-H.; Tsai P.-.; Lin H.-Y.; Hattori N.; Funayama M.; Jeon B.; Sato K.; Abe K.; Mukai Y.; Takahashi Y.; Li Y.; Nishioka K.; Yoshino H.; Daida K.; Chen M.-L.; Cheng J.; Huang C.-Y.; Tzeng S.-R.; Wu Y.-S.; Lai H.-J.; Tsai H.-H.; Yen R.-F.; Lee N.-C.; Lo W.-C.; Hung Y.-C.; CHIH-CHIANG CHAN; Ke Y.-C.; Chao C.-C.; Hsieh S.-T.; Farrer M.; Wu R.-M. |
| 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 |
2022-02-14T07:10:46Z |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
|
Kuo Y.-C.; Hsueh H.-W.; Hsueh S.-J.; Lee N.-C.; Hsieh M.-J.; Chao C.-C.; Chien Y.-H.; PEI-HSIN HUANG; Yang C.-C. |
| 臺大學術典藏 |
2022-02-14T07:10:45Z |
Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
|
Fan S.-P.; Hsueh H.-W.; Huang H.-C.; Chang K.; Lee N.-C.; PEI-HSIN HUANG; Yang C.-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 |
2021-11-30T03:30:59Z |
Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28
|
Chen P.-S.; Lee N.-C.; Fan S.-P.; CHUN-HWEI TAI; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; Lin C.-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 |
2021-11-26T05:56:47Z |
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 |
2021-11-26T05:56:40Z |
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 |
2021-11-16T02:44:01Z |
Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy
|
CHIN-HSIEN LIN; Tsai P.-.; Lin H.-Y.; Hattori N.; Funayama M.; Jeon B.; Sato K.; Abe K.; Mukai Y.; Takahashi Y.; Li Y.; Nishioka K.; Yoshino H.; Daida K.; Chen M.-L.; Cheng J.; Huang C.-Y.; Tzeng S.-R.; Wu Y.-S.; Lai H.-J.; Tsai H.-H.; Yen R.-F.; Lee N.-C.; Lo W.-C.; Hung Y.-C.; Chan C.-C.; Ke Y.-C.; Chao C.-C.; Hsieh S.-T.; Farrer M.; Wu R.-M. |
| 臺大學術典藏 |
2021-11-16T02:43:56Z |
Eye-of-Tiger Sign in Globus Pallidus: A Novel Radiological Feature of Spinocerebellar Ataxia Type 28
|
Chen P.-S.; Lee N.-C.; Fan S.-P.; Tai C.-H.; Huang C.-J.; Huang W.-H.; Jeng P.-W.; Chen J.-H.; CHIN-HSIEN LIN |
| 臺大學術典藏 |
2021-11-11T08:48:21Z |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
|
Kuo Y.-C.; HSUEH-WEN HSUEH; Hsueh S.-J.; Lee N.-C.; Hsieh M.-J.; Chao C.-C.; Chien Y.-H.; Huang P.-H.; Yang C.-C. |
| 臺大學術典藏 |
2021-11-11T08:48:20Z |
Lactate peak in muscle disclosed by magnetic resonance spectroscopy in a patient with CPEO-plus syndrome
|
Fan S.-P.; HSUEH-WEN HSUEH; Huang H.-C.; Chang K.; Lee N.-C.; Huang P.-H.; Yang C.-C. |
