| 臺大學術典藏 |
2020-02-25T08:01:42Z |
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (Ethnic Chinese) cohort of familial and early-onset parkinsonism
|
Lin C.-H; Hwu W.-L; Chiang S.-C; Tai C.-H; RUEY-MEEI WU |
| 臺大學術典藏 |
2020-02-25T08:01:29Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L; Muramatsu S.-I; Tseng S.-H; Tzen K.-Y; Lee N.-C; Chien Y.-H; Snyder R.O; Byrne B.J; Tai C.-H; RUEY-MEEI WU |
| 臺大學術典藏 |
2020-02-24T01:33:42Z |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Rey-Heng Hu;Ho M.-C.;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; REY-HENG HU; Ho M.-C.; Niu D.-M. |
| 臺大學術典藏 |
2020-02-19T09:34:00Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
Huang H.-P.;Chien Y.-H.;Huang L.-M.;Ni Y.-H.;Chang M.-H.;Ming-Chih Ho;Lee P.-H.;Hwu W.-L.; Huang H.-P.; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; MING-CHIH HO; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-02-19T09:33:54Z |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
|
Chen P.W.; Hwu W.L.; MING-CHIH HO; Lee N.C.; Chien Y.H.; Ni Y.H.; Lee P.H. |
| 臺大學術典藏 |
2020-02-19T09:33:39Z |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
Chu T.-H.;Chien Y.-H.;Lin H.-Y.;Liao H.-C.;Ho H.-J.;Lai C.-J.;Chiang C.-C.;Lin N.-C.;Yang C.-F.;Hwu W.-L.;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;Ming-Chih Ho;Niu D.-M.; Chu T.-H.; Chien Y.-H.; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J.; Chiang C.-C.; Lin N.-C.; Yang C.-F.; Hwu W.-L.; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; MING-CHIH HO; Niu D.-M. |
| 臺大學術典藏 |
2020-02-17T08:07:05Z |
Experimental treatment of bilateral fetal chylothorax using in-utero pleurodesis
|
YU-SHIH YANG; Ma G.-C; Shih J.-C; Chen C.-P; Chou C.-H; Yeh K.-T; Kuo S.-J; Chen T.-H; Hwu W.-L; Lee T.-H; Chen M. |
| 臺大學術典藏 |
2020-02-17T08:07:04Z |
Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax
|
Yeang C.-H; Ma G.-C; Shih J.-C; YU-SHIH YANG; Chen C.-P; Chang S.-P; Wu S.-H; Liu C.-S; Kuo S.-J; Chou H.-C; Hwu W.-L; Cameron A.D; Ginsberg N.A; Lin Y.-S; Chen M. |
| 臺大學術典藏 |
2020-02-17T07:43:36Z |
Human pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
|
Huang H.-P; Chen P.-H; Hwu W.-L; Chuang C.-Y; Chien Y.-H; Stone L; Chien C.-L; Li L.-T; Chiang S.-C; Chen H.-F; HONG-NERNG HO; Chen C.-H; Kuo H.-C. |
| 臺大學術典藏 |
2020-02-03T08:15:25Z |
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.;Tseng L.-H.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.- M.;Hayashi K.; Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.- M.; Hayashi K. |
| 臺大學術典藏 |
2020-02-03T08:15:24Z |
Molecular genetic study of Pompe disease in Chinese patients in Taiwan
|
Ko T.-M.; Hwu W.-L.; Lin Y.-W.; Tseng L.-H.; HSIAO-LIN HWA; Wang T.-R.; Chuang S.-M.; Ko T.-M.;Hwu W.-L.;Lin Y.-W.;Tseng L.-H.;Hsiao-Lin Hwa;Wang T.-R.;Chuang S.-M. |
| 臺大學術典藏 |
2020-02-03T08:15:05Z |
Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing
|
Li S.-F.; Hwu W.-L.; Su C.-W.; Hsiao-Lin Hwa;Wu M.-Y.;Lee J.C.-I.;Yin H.-I.;Hsu P.-M.;Li S.-F.;Hwu W.-L.;Su C.-W.; HSIAO-LIN HWA; Wu M.-Y.; Lee J.C.-I.; Yin H.-I.; Hsu P.-M. |
| 臺大學術典藏 |
2020 |
Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing
|
Li S.-F.; Hwu W.-L.; Su C.-W.; Hsu P.-M.; Yin H.-I.; JAMES CHUN-I LEE; Wu M.-Y.; Hwa H.-L.; Hwa H.-L.;Wu M.-Y.;James Chun-I Lee;Yin H.-I.;Hsu P.-M.;Li S.-F.;Hwu W.-L.;Su C.-W. |
| 臺大學術典藏 |
2020 |
Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort
|
CHIN-HSIEN LIN; Hwu W.-L.; Chien Y.-H.; Lee N.-C.; Lee B.-C.; Chen S.-J.; Chen S.-J.;Lee B.-C.;Lee N.-C.;Chien Y.-H.;Hwu W.-L.;Chin-Hsien Lin |
| 臺大學術典藏 |
2020 |
Complications of erythropoietin in navigated brain gene therapy: A case report
|
Tseng S.-H.;Chun-Hwei Tai;Hwu W.-L.; Tseng S.-H.; CHUN-HWEI TAI; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan
|
Chiang S.-C.; YIN-HSIU CHIEN; Chang K.-L.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
|
Liu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020 |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
YIN-HSIU CHIEN; Lee N.-C.; Lee W.-T.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
|
Chuang C.-K.; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lin H.-Y.; Tan L.T.H.-C.; Lee C.-L.; Lee C.-L.;Tan L.T.H.-C.;Lin H.-Y.;Hwu W.-L.;Lee N.-C.;Chien Y.-H.;Chuang C.-K.;Mei-Hwan Wu;Wang J.-K.;Chu S.-Y.;Lin J.-L.;Lo F.-S.;Su P.-H.;Hsu C.-C.;Ko Y.-Y.;Chen M.-R.;Chiu H.-C.;Lin S.-P.; MEI-HWAN WU; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020 |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
|
Lee C.-T.; Liu M.-Y.; Liu M.-Y.;Lee C.-T.;Lee N.-C.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Lee N.-C.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020 |
Development of newborn screening for pompe disease
|
YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
Lin C.-Y.; Chang F.-M.; Hsu Y.-K.; WEN-CHIN WENG; Chien Y.-H.; Lee N.-C.; Hwu W.-L.; Lee W.-T. |
| 國立成功大學 |
2020 |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
|
Chien, Y.-H.;Tsai, W.-H.;Chang, Chang C.-L.;Chiu, P.-C.;Chou, Y.-Y.;Tsai, F.-J.;Wong, S.-L.;Lee, N.-C.;Hwu, W.-L. |
| 國立成功大學 |
2020 |
De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome
|
Kao, H.-J.;Chiang, H.-L.;Chen, H.-H.;Fan, P.-C.;Tu, Y.-F.;Chou, Y.-Y.;Hwu, W.-L.;Lin, C.-L.;Kwok, P.-Y.;Lee, N.-C. |
| 臺大學術典藏 |
2019-12-05T06:27:01Z |
Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome
|
Chan P.-C.;Hsien-Ching Chiu;Hwu W.-L.; Chan P.-C.; HSIEN-CHING CHIU; Hwu W.-L. |
