| 臺大學術典藏 |
2020-09-22T09:06:12Z |
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
|
Chen S.J.; Hwu W.L.; STEVEN SHINN-FORNG PENG; Huang A.C.; Tsai L.K.; Lee N.C.; Chien Y.H.; Chien Y.H.;Lee N.C.;Tsai L.K.;Huang A.C.;Steven Shinn-Forng Peng;Chen S.J.;Hwu W.L. |
| 臺大學術典藏 |
2020-09-22T09:06:11Z |
Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia
|
Hwu W.-L.; Tseng S.-C.; Hsu L.-W.; Wu A.S.-H.; Chen L.-C.; Huang A.-C.; Liu T.-T.; STEVEN SHINN-FORNG PENG; Lee N.-C.; Chien Y.-H. |
| 臺大學術典藏 |
2020-09-22T09:06:10Z |
Schizencephaly in LEOPARD Syndrome
|
STEVEN SHINN-FORNG PENG; Liang J.-S.;Chien Y.-H.;Hwu W.-L.;Yeh S.-J.;Steven Shinn-Forng Peng; Liang J.-S.; Chien Y.-H.; Hwu W.-L.; Yeh S.-J. |
| 臺大學術典藏 |
2020-09-22T09:06:08Z |
Congenital hypopituitarism due to POU1F1 gene mutation
|
Lee N.-C.;Tsai W.-Y.;Steven Shinn-Forng Peng;Tung Y.-C.;Chien Y.-H.;Hwu W.-L.; Lee N.-C.; Tsai W.-Y.; STEVEN SHINN-FORNG PENG; Tung Y.-C.; Chien Y.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T09:06:06Z |
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child
|
STEVEN SHINN-FORNG PENG; Weng W.-C.; Liu H.-M.; Tsai L.-P.; Chien Y.-H.; Wu J.-F.; Wu E.-T.; Huang P.-H.; Lee W.-T.; Tsai I.-J.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T09:06:05Z |
Promising outcomes in glutaric aciduria type i patients detected by newborn screening
|
Lee N.-C.; Hwu W.-L.; Huang A.-C.; Chang L.-M.; Cheng P.-W.; STEVEN SHINN-FORNG PENG; Chien Y.-H.; Lee C.-S. |
| 臺大學術典藏 |
2020-09-22T09:06:05Z |
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C
|
Chien Y.H.; STEVEN SHINN-FORNG PENG; Yang C.C.; Lee N.C.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L. |
| 臺大學術典藏 |
2020-09-22T09:06:04Z |
Outcome of early-treated type III Gaucher disease patients
|
Tsai F.-J.; STEVEN SHINN-FORNG PENG; Lee N.-C.; Chien Y.-H.; Wong S.-L.; Sheen J.-M.; Leung J.H.; Chao M.-C.; Shun C.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T09:06:04Z |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
|
Lin C.-H.; Chien Y.-H.; STEVEN SHINN-FORNG PENG; Tsai W.-Y.; Tung Y.-C.; Lee C.-T.; Chien C.-C.; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T09:06:02Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
|
STEVEN SHINN-FORNG PENG; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2020-09-22T09:06:01Z |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
|
Hsu R.-H.;Hwu W.-L.;Chen M.;Chung I.-F.;Steven Shinn-Forng Peng;Chen C.-Y.;Cheng W.-C.;Chien Y.-H.;Lee N.-C.; Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; STEVEN SHINN-FORNG PENG; Chen C.-Y.; Cheng W.-C.; Chien Y.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T09:06:00Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
|
Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; STEVEN SHINN-FORNG PENG; Tseng W.-Y.I.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:57Z |
Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease
|
Peng S.S.-F.; Li Y.-W.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:56Z |
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation
|
Hsu Y.-S.; Hwu W.-L.; Huang S.-F.; Lu M.-Y.; Chen R.-L.; Lin D.-T.; Peng S.S.F.; Lin K.-H. |
| 臺大學術典藏 |
2020-09-22T08:51:55Z |
Deletion of 11q24.2-qter with agenesis of unilateral internal carotid artery and total anomalous pulmonary venous return [1]
|
Wu C.-H.; Hwu W.-L.; Wang J.-K.; Young C.; Peng S.S.-F.; Kuo M.-F. |
| 臺大學術典藏 |
2020-09-22T08:51:54Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Chien Y.-H.; Peng S.-F.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:52Z |
Adrenoleukodystrophy: Clinical analysis of 9 Taiwanese children
|
Wang P.-J.; Shen Y.-Z.; Chu L.-W.; Peng S.S.-F.; Hwu W.-L.; Lee W.-T.; Liang J.-S. |
| 臺大學術典藏 |
2020-09-22T08:51:50Z |
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.; Tsai L.K.; Huang A.C.; Peng S.F.; Chen S.J.; Hwu W.L. |
| 臺大學術典藏 |
2020-09-22T08:51:50Z |
Brain development in infantile-onset pompe disease treated by enzyme replacement therapy
|
Chien Y.-H.; Lee N.-C.; Peng S.-F.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:48Z |
Schizencephaly in LEOPARD Syndrome
|
Liang J.-S.; Chien Y.-H.; Hwu W.-L.; Yeh S.-J.; Peng S.-F. |
| 臺大學術典藏 |
2020-09-22T08:51:47Z |
Congenital hypopituitarism due to POU1F1 gene mutation
|
Hwu W.-L.; Chien Y.-H.; Tung Y.-C.; Peng S.-F.; Tsai W.-Y.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T08:51:45Z |
Promising outcomes in glutaric aciduria type i patients detected by newborn screening
|
Hwu W.-L.; Lee N.-C.; Lee C.-S.; Chien Y.-H.; Peng S.-F.; Cheng P.-W.; Chang L.-M.; Huang A.-C. |
| 臺大學術典藏 |
2020-09-22T08:51:45Z |
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.; Tsai L.K.; Huang A.C.; Su S.C.; Tseng C.C.; Hwu W.L. |
| 臺大學術典藏 |
2020-09-22T08:51:44Z |
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.; Shun C.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-09-22T08:51:43Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
|
Peng S.S.-F.; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Tsai W.-H.; Chien Y.-H. |
| 臺大學術典藏 |
2020-09-22T08:51:42Z |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
|
Chen C.-Y.; Peng S.S.-F.; Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Cheng W.-C.; Chien Y.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-09-22T08:51:41Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
|
Tseng C.-H.; Chien Y.-H.; Lee N.-C.; Hsu Y.-C.; Peng S.-F.; Tseng W.-Y.I.; Hwu W.-L. |
| 臺大學術典藏 |
2020-08-21T08:51:22Z |
MRI in a case of adult-onset citrullinemia
|
Chen Y.-F.;Huang Y.-C.;Hon-Man Liu;Hwu W.-L.; Chen Y.-F.; Huang Y.-C.; HON-MAN LIU; Hwu W.-L. |
| 臺大學術典藏 |
2020-08-21T08:51:16Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
HON-MAN LIU; Hwu W.-L.; Chien Y.-H.; Tseng W.-Y.I.; Peng S.S.-F.; Peng S.S.-F.;Tseng W.-Y.I.;Chien Y.-H.;Hwu W.-L.;Hon-Man Liu |
| 臺大學術典藏 |
2020-07-20T05:28:05Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
|
Chu S.-Y.; Lin S.-J.; Chen C.-H.; Hsiue H.-C.; Lee N.-C.; Tsai H.-B.; Yang C.-C.; Wu C.-S.; Lee W.-T.; Weng W.-C.; Fan P.-C.; Chien Y.-H.; Hwu W.-L.; Hung K.-L.; Huang C.-C.; Wang T.-J.; Lu C.-J.; PEI-LIN LEE; Hsiue H.-C.;Lee N.-C.;Tsai H.-B.;Yang C.-C.;Wu C.-S.;Lee W.-T.;Weng W.-C.;Fan P.-C.;Chien Y.-H.;Hwu W.-L.;Hung K.-L.;Huang C.-C.;Chen C.-H.;Lin S.-J.;Chu S.-Y.;Wang T.-J.;Lu C.-J.;Pei-Lin Lee |
| 臺大學術典藏 |
2020-07-20T05:27:59Z |
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.;Chen C.-L.;Hwu W.-L.;Pei-Lin Lee; Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; Chien Y.-H.; Chen C.-L.; Hwu W.-L.; PEI-LIN LEE |
| 臺大學術典藏 |
2020-07-13T01:03:27Z |
Cerebral diffusion tensor images in infants and neonates with infantile onset pompe disease
|
Peng S.S.-F.;Chien Y.-H.;Hwu W.-L.;Liu H.-M.;Wen-Yih Tseng; Peng S.S.-F.; Chien Y.-H.; Hwu W.-L.; Liu H.-M.; WEN-YIH TSENG |
| 臺大學術典藏 |
2020-07-03T06:08:21Z |
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.;Mu-Zon Wu;Liu K.-L.;Wu M.-S.; Tsai C.-W.; Yang C.-C.; Chen H.-L.; Hwu W.-L.; MU-ZON WU; Liu K.-L.; Wu M.-S. |
| 臺大學術典藏 |
2020-07-03T06:08:15Z |
Mosaic paternal haploidy in a patient with pancreatoblastoma and Beckwith–Wiedemann spectrum
|
Jong Y.-J.; Liu S.-Y.; Tsai W.-Y.; Lee N.-C.; Su Y.-N.; Yang Y.-L.; Chen H.-L.; Chen M.; Lin W.-H.; MU-ZON WU; Kuo K.-T.; Shih J.-C.; Hwu W.-L.; Lee C.-T.;Tung Y.-C.;Hwu W.-L.;Shih J.-C.;Lin W.-H.;Mu-Zon Wu;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.; Tung Y.-C. |
| 臺大學術典藏 |
2020-07-03T02:18:47Z |
Transfusion?acquired cytomegalovirus infection in children in a hyperendemic area
|
Lee P.?I.;Chang M.?H.;Hwu W.?L.;Chuan-Liang Kao;Lee C.?Y.; Lee P.?I.; Chang M.?H.; Hwu W.?L.; CHUAN-LIANG KAO; Lee C.?Y. |
| 臺大學術典藏 |
2020-06-27T06:40:11Z |
DiGeorge sequence with hypogammaglobulinemia: A case report
|
Kuo P.-L.; BOR-LUEN CHIANG; Hwu W.-L.; Chien Y.-H.;Yang Y.-H.;Chu S.-Y.;Hwu W.-L.;Kuo P.-L.;Bor-Luen Chiang; Chien Y.-H.; Yang Y.-H.; Chu S.-Y. |
| 臺大學術典藏 |
2020-06-27T06:40:09Z |
Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings
|
Chien Y.-H.;Yang Y.-H.;Hwu W.-L.;Chou C.-C.;Bor-Luen Chiang; Chien Y.-H.; Yang Y.-H.; Hwu W.-L.; Chou C.-C.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2020-06-27T06:40:01Z |
Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan
|
Chien Y.-H.;Hwu W.-L.;Ariga T.;Chang K.-W.;Yang Y.-H.;Lin K.-H.;Bor-Luen Chiang; Chien Y.-H.; Hwu W.-L.; Ariga T.; Chang K.-W.; Yang Y.-H.; Lin K.-H.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2020-06-27T06:39:43Z |
The genetics of atopic dermatitis
|
Chien Y.-H.;Hwu W.-L.;Bor-Luen Chiang; Chien Y.-H.; Hwu W.-L.; BOR-LUEN CHIANG |
| 臺大學術典藏 |
2020-06-27T06:39:24Z |
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.; 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 |
2020-06-27T06:38:52Z |
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 |
2020-05-25T06:51:59Z |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer
|
Chang K.-J.;Hwu W.-L;Hsieh F.-J;Cheng A.-L;Lin C.-H;Sargeant A.M;Bai L.-Y;Yen-Shen Lu;Liu T.-P;Chien Y.-H;Huang A.-C;Lin P.-H;Kuo W.-H; Kuo W.-H; Lin P.-H; Huang A.-C; Chien Y.-H; Liu T.-P; YEN-SHEN LU; 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 |
2020-04-24T01:34:25Z |
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or pendred syndrome
|
Hsu C.-J.; Hwu W.-L.; Su Y.-N.; Yeh P.-L.; Chen P.-J.; Lu Y.-C.; Chen-Chi Wu |
| 臺大學術典藏 |
2020-04-24T01:34:25Z |
Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment
|
Chen-Chi Wu; Lu Y.-C.; Chen P.-J.; Liu A.Y.-Z.; Hwu W.-L.; Hsu C.-J. |
| 臺大學術典藏 |
2020-04-24T01:34:23Z |
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome
|
Wang S.-H.; Chen-Chi Wu; Lu Y.-C.; Lin Y.-H.; Su Y.-N.; Hwu W.-L.; Yu I.-S.; Hsu C.-J. |
| 臺大學術典藏 |
2020-04-16T02:35:07Z |
The design and implementation of a next generation information system for newborn screening
|
FEI-PEI LAI; Lai, F.; Chien, Y.-H.; Hwu, W.-L.; Chang, H.-Y.; Tang, M.-Y.; Tu, C.-M. |
| 臺大學術典藏 |
2020-04-16T02:34:58Z |
Web-based newborn screening system for metabolic diseases: Machine learning versus clinicians
|
Chen, W.-H.;Hsieh, S.-L.;Hsu, K.-P.;Chen, H.-P.;Su, X.-Y.;Tseng, Y.-J.;Chien, Y.-H.;Hwu, W.-L.;Lai, F.; Chen, W.-H.; Hsieh, S.-L.; Hsu, K.-P.; Chen, H.-P.; Su, X.-Y.; Tseng, Y.-J.; Chien, Y.-H.; Hwu, W.-L.; Lai, F.; FEI-PEI LAI |
| 臺大學術典藏 |
2020-04-07T08:52:09Z |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
|
Chien Y.-H.; Lu L.; JENG-YI SHIEH; Zeng Y.-T.; Hwu W.-L.; Torng P.-C.; Lee N.-C. |
| 臺大學術典藏 |
2020-03-31T08:09:02Z |
Myostatin and Insulin-Like Growth Factor I: Potential Therapeutic Biomarkers for Pompe Disease
|
Yang W.-S.; Thurberg B.L.; Hwu W.-L.; DER-SHENG HAN; Chien Y.-H.;Der-Sheng Han;Hwu W.-L.;Thurberg B.L.;Yang W.-S.; Chien Y.-H. |
| 臺大學術典藏 |
2020-03-27T02:03:57Z |
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma
|
Wu M.-S.; KAO-LANG LIU; Wu M.-Z.; Hwu W.-L.; Chen H.-L.; Yang C.-C.; Tsai C.-W.; Tsai C.-W.;Yang C.-C.;Chen H.-L.;Hwu W.-L.;Wu M.-Z.;Kao-Lang Liu;Wu M.-S. |
