| 臺大學術典藏 |
2021-07-02T03:42:10Z |
The genetics of atopic dermatitis
|
Chien Y.-H.; Hwu W.-L.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2021-07-02T03:41:49Z |
Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010
|
Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; BOR-LUEN CHIANG; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; Yang Y.-H.; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L.; Hwu W.-L.; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W. |
| 臺大學術典藏 |
2021-07-02T03:41:15Z |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
|
Yu H.-H.;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yang Y.-H.;Hwu W.-L.;Bor-Luen Chiang; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2021-07-02T02:35:35Z |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
|
Chien Y.-H.; Han D.-S.; Hwu W.-L.; Thurberg B.L.; WEI-SHIUNG YANG |
| 臺大學術典藏 |
2021-07-02T02:35:16Z |
Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan
|
Tung Y.-C.; Fann C.S.-J.; Chang C.-C.; Chu C.-C.; WEI-SHIUNG YANG; Hwu W.-L.; Chen P.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-06-29T08:16:06Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
|
Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-29T08:16:05Z |
Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
|
Chien Y.-H.; Chiang S.-C.; Huang A.; Lin J.-M.; YEN-NAN CHIU; Chou S.-P.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-29T08:15:50Z |
Blood beta-amyloid and tau in down syndrome: A comparison with Alzheimer's disease
|
Lee N.-C.; Yang S.-Y.; Chieh J.-J.; Huang P.-T.; Chang L.-M.; YEN-NAN CHIU; Huang A.-C.; Chien Y.-H.; Hwu W.-L.; Chiu M.-J. |
| 臺大學術典藏 |
2021-06-24T07:19:36Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
Huang H.-P.; Chien Y.-H.; LI-MIN HUANG; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-11T02:54:15Z |
The controversy regarding diagnostic criteria for early myoclonic encephalopathy
|
Wang P.-J.; WANG-TSO LEE; Hwu W.-L.; Young C.; Yau K.-I.T.; Shen Y.-Z. |
| 臺大學術典藏 |
2021-06-11T02:54:15Z |
Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease
|
Wang P.-J.; Hwu W.-L.; WANG-TSO LEE; Wang T.-R.; Shen Y.-Z. |
| 臺大學術典藏 |
2021-06-03T06:50:22Z |
Tandem mass neonatal screening in Taiwan - Report from one center
|
HSIANG-PO HUANG; Chu K.-L.; Chien Y.-H.; Wei M.-L.; Wu S.-T.; Wang S.-F.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-03T06:50:22Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
HSIANG-PO HUANG; Chien Y.-H.; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-06-03T06:50:21Z |
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
|
Chien Y.H.; HSIANG-PO HUANG; Hwu W.L.; Chien Y.H.; Chang T.C.; Lee N.C. |
| 臺大學術典藏 |
2021-06-03T06:50:17Z |
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
|
HSIANG-PO HUANG; 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.; Ho H.-N.; Chen C.-H.; Kuo H.-C. |
| 臺大學術典藏 |
2021-05-18T05:54:28Z |
Complications of erythropoietin in navigated brain gene therapy: A case report
|
SHENG-HONG TSENG; Tai C.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-04-07T01:56:47Z |
Acute metabolic decompensation and sudden death in Barth syndrome: Report of a family and a literature review
|
TING-YU YEN; Hwu W.-L.; Chien Y.-H.; Wu M.-H.; Lin M.-T.; Tsao L.-Y.; Hsieh W.-S.; Lee N.-C. |
| 臺大學術典藏 |
2021-03-29T06:37:04Z |
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.; 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.; FEI-PEI LAI |
| 臺大學術典藏 |
2021-03-18T05:59:08Z |
Gene therapy for aromatic L-amino acid decarboxylase deficiency
|
Hwu W.-L.; Muramatsu S.-I.; Tseng S.-H.; KAI-YUAN TZEN; Lee N.-C.; Chien Y.-H.; Snyder R.O.; Byrne B.J.; Tai C.-H.; Wu R.-M. |
| 臺大學術典藏 |
2021-03-18T05:59:06Z |
Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency
|
Lee N.-C.; Shieh Y.-D.; Chien Y.-H.; KAI-YUAN TZEN; Yu I.-S.; Chen P.-W.; Hu M.-H.; Hu M.-K.; Muramatsu S.-I.; Ichinose H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-03-18T05:59:04Z |
AADC Deficiency: Occurring in Humans; Modeled in Rodents; Treated in Patients
|
Hwu W.-L.; Lee N.-C.; Shieh Y.-D.; KAI-YUAN TZEN; Chen P.-W.; Muramatsu S.-I.; Ichinose H.; Chien Y.-H. |
| 臺大學術典藏 |
2021-03-18T05:59:02Z |
Treatment of congenital neurotransmitter deficiencies by intracerebral ventricular injection of an adeno-associated virus serotype 9 vector
|
Lee N.-C.; Chien Y.-H.; Hu M.-H.; Liu W.-S.; Chen P.-W.; Wang W.-H.; KAI-YUAN TZEN; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2021-03-18T05:59:00Z |
Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency
|
Lee N.-C.; Muramatsu S.-I.; Chien Y.-H.; Liu W.-S.; Wang W.-H.; Cheng C.-H.; Hu M.-K.; Chen P.-W.; KAI-YUAN TZEN; Byrne B.J.; Hwu W.-L. |
| 臺大學術典藏 |
2021-03-18T02:02:47Z |
Outcome of early-treated type III Gaucher disease patients
|
Lee N.-C.;Chien Y.-H.;Wong S.-L.;Sheen J.-M.;Tsai F.-J.;Peng S.-F.;Leung J.H.;Chao M.-C.;Chia-Tung Shun;Hwu W.-L.; Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F.; Leung J.H.; Chao M.-C.; CHIA-TUNG SHUN; Hwu W.-L. |
| 臺大學術典藏 |
2021-03-18T02:02:21Z |
Fabry disease cardiac variant IVS4+919 G>A is associated with multiple cardiac gene variants in patients with severe cardiomyopathy and fatal arrhythmia
|
Juang J.-M.J.;Chia-Tung Shun;Chen Y.-S.;Hwu W.-L.;Lee N.-C.;Tsai W.-H.;Chen N.-Q.;Chien Y.-H.; Juang J.-M.J.; CHIA-TUNG SHUN; Chen Y.-S.; Hwu W.-L.; Lee N.-C.; Tsai W.-H.; Chen N.-Q.; Chien Y.-H. |
| 臺大學術典藏 |
2021-02-04T06:46:28Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.; Tung Y.-C.; Hwu W.-L.; JIN-CHUNG SHIH; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2021-02-02T02:22:18Z |
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 |
2021-01-27T01:38:18Z |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
Lee M.J.; Su Y.N.; You H.L.; Chiou S.C.; Lin L.C.; Yang C.C.; Lee W.C.; Hwu W.L.; Hsieh F.J.; Stephenson D.A.; CHIA-LI YU |
| 臺大學術典藏 |
2021-01-21T02:05:00Z |
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation
|
Li S.-C.; Hwu W.-L.; Lin J.-L.; Bali D.S.; Yang C.; Chu S.-M.; Chien Y.-H.; Chou H.-C.; CHIEN-YI CHEN; Hsieh W.-S.; Tsao P.-N.; Chen Y.-T.; Lee N.-C. |
| 臺大學術典藏 |
2021-01-11T07:19:42Z |
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening
|
Tsai W.-Y.; Hwu W.-L.; Chien Y.-H.; Tung Y.-C.; SHIH-YAO LIU; Lee C.-T.; Shih-Yao Liu;Lee C.-T.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-11T07:19:40Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; SHIH-YAO LIU; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2021-01-08T07:28:13Z |
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening
|
Liu S.-Y.;Cheng-Ting Lee;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu S.-Y.; CHENG-TING LEE; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-08T07:28:13Z |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
|
Hwu W.-L.; Lee N.-C.; Chien C.-C.; Lin C.-H.;Chien Y.-H.;Peng S.-F.;Tsai W.-Y.;Tung Y.-C.;Cheng-Ting Lee;Chien C.-C.;Hwu W.-L.;Lee N.-C.; Lin C.-H.; Chien Y.-H.; Peng S.-F.; Tsai W.-Y.; Tung Y.-C.; CHENG-TING LEE |
| 臺大學術典藏 |
2021-01-08T07:28:12Z |
SHOX deficiency in short Taiwanese children: A single-center experience
|
Tung Y.-C.;Lee N.-C.;Hwu W.-L.;Liu S.-Y.;Cheng-Ting Lee;Chien Y.-H.;Tsai W.-Y.; Tung Y.-C.; Lee N.-C.; Hwu W.-L.; Liu S.-Y.; CHENG-TING LEE; Chien Y.-H.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-08T07:28:12Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Cheng-Ting Lee;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; CHENG-TING LEE; Tung Y.-C.; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2021-01-08T07:28:11Z |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
|
Liu M.-Y.;Cheng-Ting Lee;Lee N.-C.;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu M.-Y.; CHENG-TING LEE; Lee N.-C.; Tung Y.-C.; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-08T06:17:26Z |
Slipped capital femoral epiphysis as a complication of growth hormone therapy.
|
Wang S.Y.; YI-CHING TUNG; Tsai W.Y.; Chien Y.H.; Lee J.S.; Hwu W.L. |
| 臺大學術典藏 |
2021-01-08T06:17:23Z |
Congenital hypopituitarism due to POU1F1 gene mutation
|
Lee N.-C.;Tsai W.-Y.;Peng S.-F.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.; Lee N.-C.; Tsai W.-Y.; Peng S.-F.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2021-01-08T06:17:20Z |
Comprehensive human leukocyte antigen genotyping of patients with type 1 diabetes mellitus in Taiwan
|
Tsai W.-Y.; Chen P.-L.; Hwu W.-L.; Yang W.-S.; Chu C.-C.; Chang C.-C.; Fann C.S.-J.; YI-CHING TUNG; Yi-Ching Tung;Fann C.S.-J.;Chang C.-C.;Chu C.-C.;Yang W.-S.;Hwu W.-L.;Chen P.-L.;Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-08T06:17:20Z |
Clinical characteristics of Taiwanese children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency detected by neonatal screening
|
Liu S.-Y.;Lee C.-T.;Yi-Ching Tung;Chien Y.-H.;Hwu W.-L.;Tsai W.-Y.; Liu S.-Y.; Lee C.-T.; YI-CHING TUNG; Chien Y.-H.; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-08T06:17:19Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Lee C.-T.;Yi-Ching Tung;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Wu M.-Z.;Kuo K.-T.;Yang Y.-L.;Chen H.-L.;Chen M.;Su Y.-N.;Jong Y.-J.;Liu S.-Y.;Tsai W.-Y.;Lee N.-C.; Lee C.-T.; YI-CHING TUNG; Hwu W.-L.; Shih J.-C.; Lin W.-H.; Wu M.-Z.; Kuo K.-T.; Yang Y.-L.; Chen H.-L.; Chen M.; Su Y.-N.; Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2021-01-08T06:17:19Z |
SHOX deficiency in short Taiwanese children: A single-center experience
|
Yi-Ching Tung;Lee N.-C.;Hwu W.-L.;Liu S.-Y.;Lee C.-T.;Chien Y.-H.;Tsai W.-Y.; YI-CHING TUNG; Lee N.-C.; Hwu W.-L.; Liu S.-Y.; Lee C.-T.; Chien Y.-H.; Tsai W.-Y. |
| 臺大學術典藏 |
2021-01-07T06:09:28Z |
Transfusion?acquired cytomegalovirus infection in children in a hyperendemic area
|
Lee C.?Y.; Kao C.?L.; Hwu W.?L.; Chang M.?H.; PING-ING LEE |
| 臺大學術典藏 |
2021-01-06T08:24:03Z |
Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings
|
YAO-HSU YANG; Chien Y.-H.; Chien Y.-H.;Yao-Hsu Yang;Hwu W.-L.;Chou C.-C.;Chiang B.-L.; Hwu W.-L.; Chou C.-C.; Chiang B.-L. |
| 臺大學術典藏 |
2021-01-06T08:23:40Z |
Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985-2010
|
Lee W.-I. ;Huang J.-L. ;Jaing T.-H. ;Shyur S.-D. ;Yang K.D. ;Chien Y.-H. ;Chiang B.-L. ;Soong W.-J. ;Chiou S.-S. ;Shieh C.-C. ;Lin S.-J. ;Yeh K.-W. ;Chen L.-C. ;Ou L.-S. ;Yao T.-C. ;Lin T.-Y. ;Chiu C.-H. ;Huang Y.-C. ;Wu K.-H. ;Lin C.-Y. ;Yu H.-H. ;Yao-Hsu Yang ;Yu H.-R. ;Yen H.-J. ;Hsieh M.-Y. ;Kuo M.-L. ;Hwu W.-L. ;Tsai Y.-C. ;Kuo H.-C. ;Lin Y.-L. ;Shih Y.-F. ;Chang K.-W.; Hwu W.-L.; Tsai Y.-C.; Kuo H.-C.; Lin Y.-L.; Shih Y.-F.; Chang K.-W.; Lee W.-I.; Huang J.-L.; Jaing T.-H.; Shyur S.-D.; Yang K.D.; Chien Y.-H.; Chiang B.-L.; Soong W.-J.; Chiou S.-S.; Shieh C.-C.; Lin S.-J.; Yeh K.-W.; Chen L.-C.; Ou L.-S.; Yao T.-C.; Lin T.-Y.; Chiu C.-H.; Huang Y.-C.; Wu K.-H.; Lin C.-Y.; Yu H.-H.; YAO-HSU YANG; Yu H.-R.; Yen H.-J.; Hsieh M.-Y.; Kuo M.-L. |
| 臺大學術典藏 |
2021-01-06T08:23:25Z |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
|
Yu H.-H.;Hu T.-C.;Lee N.-C.;Chien Y.-H.;Yao-Hsu Yang;Hwu W.-L.;Chiang B.-L.; Yu H.-H.; Hu T.-C.; Lee N.-C.; Chien Y.-H.; YAO-HSU YANG; Hwu W.-L.; Chiang B.-L. |
| 臺大學術典藏 |
2021-01-06T06:51:53Z |
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation
|
Tang N.L.S.; CHUN-AN CHEN; Chun-An Chen;Tang N.L.S.;Chen Y.-H.;Zhang W.-M.;Wang J.-K.;Hwu W.-L.; Chen Y.-H.; Zhang W.-M.; Wang J.-K.; Hwu W.-L. |
| 臺大學術典藏 |
2021-01-06T06:51:49Z |
Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease
|
Lee N.-C.; Lin M.-T.; Hwu W.-L.; Wang J.-K.; Wu M.-H.; Chen L.-R.;Chun-An Chen;Chiu S.-N.;Chien Y.-H.;Lee N.-C.;Lin M.-T.;Hwu W.-L.;Wang J.-K.;Wu M.-H.; Chen L.-R.; CHUN-AN CHEN; Chiu S.-N.; Chien Y.-H. |
| 臺大學術典藏 |
2021-01-06T06:51:46Z |
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening
|
Lee N.-C.;Tang N.L.-S.;Chien Y.-H.;Chun-An Chen;Lin S.-J.;Chiu P.-C.;Huang A.-C.;Hwu W.-L.; Lee N.-C.; Tang N.L.-S.; Chien Y.-H.; CHUN-AN CHEN; Lin S.-J.; Chiu P.-C.; Huang A.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2021-01-06T06:51:44Z |
Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy
|
Wu M.-H.; Chiu H.-H.; Chiu S.-N.; Lin M.-T.; Lu C.-W.; Chen L.-R.; Wang J.-K.; Chun-An Chen ;Chien Y.-H. ;Hwu W.-L. ;Lee N.-C. ;Wang J.-K. ;Chen L.-R. ;Lu C.-W. ;Lin M.-T. ;Chiu S.-N. ;Chiu H.-H. ;Wu M.-H.; CHUN-AN CHEN; Chien Y.-H.; Hwu W.-L.; Lee N.-C. |
