| 臺大學術典藏 |
2021-06-01T07:03:27Z |
Osteoblast-derived TGF-β1 stimulates IL-8 release through AP-1 and NF-κB in human cancer cells
|
Fong Y.-C.; Maa M.-C.; Tsai F.-J.; Chen W.-C.; Lin J.-G.; Jeng L.-B.; Yang R.-S.; WEN-MEI FU; Tang C.-H. |
| 臺大學術典藏 |
2021-05-31T02:57:26Z |
Osteoblast-derived TGF-β1 stimulates IL-8 release through AP-1 and NF-κB in human cancer cells
|
Fong Y.-C.; Maa M.-C.; Tsai F.-J.; Chen W.-C.; Lin J.-G.; Jeng L.-B.; RONG-SEN YANG; Fu W.-M.; Tang C.-H. |
| 臺大學術典藏 |
2021-04-20T03:46:05Z |
Risk factors for Kaposi's sarcoma in human immunodeficiency virus patients after initiation of antiretroviral therapy: A nested case–control study in Kenya
|
Lupia R.;Wabuyia P.B.;Otiato P.;Chi-Tai Fang;Tsai F.-J.; Lupia R.; Wabuyia P.B.; Otiato P.; CHI-TAI FANG; Tsai F.-J. |
| 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 |
2021-01-06T03:39:11Z |
Significant association of XRCC4 single nucleotide polymorphisms with childhood leukemia in Taiwan
|
Wu K.-H.; Wang C.-H.; YUNG-LI YANG; Peng C.-T.; Lin W.-D.; Tsai F.-J.; Lin D.-T.; Bau D.-T. |
| 臺大學術典藏 |
2021-01-06T03:39:11Z |
Association study of cyclooxygenase 2 single nucleotide polymorphisms and childhood acute lymphoblastic leukemia in Taiwan
|
Wang C.-H.; Wu K.-H.; YUNG-LI YANG; Peng C.-T.; Wang R.-F.; Tsai C.-W.; Tsai R.-Y.; Linn D.-T.; Tsai F.-J.; Bau D.-T. |
| 臺大學術典藏 |
2021-01-06T03:39:09Z |
Association between Ataxia Telangiectasia Mutated gene polymorphisms and childhood leukemia in Taiwan
|
Wang C.-H.; Wu K.-H.; YUNG-LI YANG; Peng C.-T.; Tsai F.-J.; Lin D.-T.; Chiu C.-F.; Lin C.-C.; Bau D.-T. |
| 臺大學術典藏 |
2021-01-05T08:07:22Z |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; MEI-HWAN WU; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:07Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chen Y.-T.; Tsai F.-J.; Huang P.-H.; Wu M.-H.; Huang A.-C.; Chen C.-A.; Lee N.-C.; Keutzer J.; Zhang X.K.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:00Z |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan
|
Lin S.-J.; Pan H.-P.; Tsai F.-J.; Ke Y.-Y.; Lin D.-S.; YIN-HSIU CHIEN; Chen C.-P.; Chuang C.-K.; Chen M.-R.; Lin H.-Y.; Hwu W.-L.; Niu D.-M.; Lee N.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-24T06:17:00Z |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Wu M.-H.; Huang A.-C.; Keutzer J.; Zhang X.K.; Thurberg B.L.; Chiang S.-C.; Lee N.-C.; YIN-HSIU CHIEN; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:57Z |
Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease
|
YIN-HSIU CHIEN; Lee N.-C.; Tsai F.-J.; Chao M.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:56Z |
Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening
|
Huang H.-J.; Lee N.-C.; YIN-HSIU CHIEN; Thurberg B.L.; Tsai F.-J.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:41Z |
Outcome of early-treated type III Gaucher disease patients
|
Hwu W.-L.; Shun C.-T.; Chao M.-C.; Leung J.H.; Lee N.-C.; YIN-HSIU CHIEN; Wong S.-L.; Sheen J.-M.; Tsai F.-J.; Peng S.-F. |
| 臺大學術典藏 |
2020-12-24T06:16:40Z |
Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease
|
Hwu W.-L.; Tsai F.-J.; Thurberg B.L.; Tsai Y.-J.; YIN-HSIU CHIEN; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:37Z |
Long-term prognosis of patients with infantile-onset pompe disease diagnosed by newborn screening and treated since birth
|
Tsai F.-J.; Chen C.-A.; Lee N.-C.; YIN-HSIU CHIEN; Tsai W.-H.; Shieh J.-Y.; Huang H.-J.; Hsu W.-C.; Tsai T.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:34Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
|
YIN-HSIU CHIEN; Tsai W.-H.; Tsai F.-J.; Lee N.-C.; Hwu W.-L.; Peng S.S.-F. |
| 臺大學術典藏 |
2020-12-24T06:16:33Z |
3-O-methyldopa levels in newborns: Result of newborn screening for aromatic L-amino-acid decarboxylase deficiency
|
YIN-HSIU CHIEN; Chen P.-W.; Lee N.-C.; Hsieh W.-S.; Chiu P.-C.; Hwu W.-L.; Tsai F.-J.; Lin S.-P.; Chu S.-Y.; Jong Y.-J.; Chao M.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:32Z |
Genetic epidemiological study doesn't support GLA IVS4?+?919G?>?A variant is a significant mutation in Fabry disease
|
Hwu W.-L.; YIN-HSIU CHIEN; Wen M.-S.; Song I.-W.; Chang C.-P.; Wang N.H.-H.; Chiang H.-L.; Tsai F.-J.; Chen Y.-T.; Wu J.-Y. |
| 臺大學術典藏 |
2020-12-24T06:16:31Z |
Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease
|
YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C.; Tsai F.-J.; Koeberl D.D.; Tsai W.-H.; Chiu P.-C.; Chang C.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:27Z |
Functional independence of Taiwanese children with Prader–Willi syndrome
|
Chuang C.-K.; Tsai F.-J.; Chou Y.-Y.; Chao M.-C.; Lee N.-C.; Niu D.-M.; YIN-HSIU CHIEN; Huang Y.-H.; Tu R.-Y.; Chiu H.-C.; Tsai L.-P.; Lin H.-Y.; Lee C.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-24T06:16:24Z |
Congenital generalized lipodystrophy in Taiwan
|
Hsu R.-H.; Lin W.-D.; Chao M.-C.; Hsiao H.-P.; Wong S.-L.; Chiu P.-C.; Chu S.-Y.; Ke Y.-Y.; Lau B.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai F.-J.; Wang C.-H.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:15Z |
Earlier and higher dosing of alglucosidase alfa improve outcomes in patients with infantile-onset Pompe disease: Evidence from real-world experiences
|
YIN-HSIU CHIEN; Tsai W.-H.; Chang C.-L.; Chiu P.-C.; Chou Y.-Y.; Tsai F.-J.; Wong S.-L.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:13Z |
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
|
Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; YIN-HSIU CHIEN; Niu D.-M.; Tsai F.-J.; Hwu W.-L.; Lin S.J.; Lin J.-L.; Chao M.-C.; Chang T.-M.; Tsai W.-H.; Wang T.-J.; Chuang C.-K.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-21T01:58:22Z |
Sleep problems in children with autism, attention-deficit hyperactivity disorder, and epilepsy
|
Chiu Y.-N.; Tsai F.-J.; Chiang H.-L.; Lee C.-M.; Gau S.S.-F.; Lee W.-T.; PI-CHUAN FAN; Wu Y.-Y. |
| 臺大學術典藏 |
2020-12-21T01:58:21Z |
ADHD-related symptoms, emotional/behavioral problems, and physical conditions in Taiwanese children with epilepsy
|
Chiu Y.-N.; Gau S.S.F.; Lin W.-S.; PI-CHUAN FAN; Lee W.-T.; Lee C.-M.; Liu S.-T.; Tsai F.-J.; Tsai F.-J.;Liu S.-T.;Lee C.-M.;Lee W.-T.;Pi-Chuan Fan;Lin W.-S.;Chiu Y.-N.;Gau S.S.F. |
| 臺大學術典藏 |
2020-12-21T01:58:21Z |
Molecular aspects of Dravet syndrome patients in Taiwan
|
Tsai F.-J.; Tsai C.-H.; Chou I.-C.; Tsai Y.; Lin W.-C.; Weng W.-C.; PI-CHUAN FAN; Chen S.-J.; Lin W.-D.;Chang K.-P.;Wang C.-H.;Chen S.-J.;Pi-Chuan Fan;Weng W.-C.;Lin W.-C.;Tsai Y.;Tsai C.-H.;Chou I.-C.;Tsai F.-J.; Lin W.-D.; Chang K.-P.; Wang C.-H. |
| 臺大學術典藏 |
2020-12-18T02:21:47Z |
Sleep problems in children with autism, attention-deficit hyperactivity disorder, and epilepsy
|
Chiu Y.-N.; Wu Y.-Y.; Tsai F.-J.; Chiang H.-L.; Lee C.-M.; Gau S.S.-F.; WANG-TSO LEE; Fan P.-C. |
| 臺大學術典藏 |
2020-12-16T02:26:32Z |
Niemann-Pick disease type B with ocular involvement: report of a case.
|
Tsai F.J.;Peng C.T.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.; Tsai F.J.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R. |
| 臺大學術典藏 |
2020-12-16T02:26:29Z |
Molecular diagnosis of Gaucher disease type II.
|
Tsai F.J.;Chen H.W.;Peng C.T.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.;Liu S.C.; Tsai F.J.; Chen H.W.; Peng C.T.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Liu S.C. |
| 臺大學術典藏 |
2020-12-16T02:26:28Z |
Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of SRY gene.
|
Tsai F.J.;Tsai C.H.;Wuh-Liang Hwu;Wang T.R.;Shu S.G.;Liu S.C.; Tsai F.J.; Tsai C.H.; WUH-LIANG HWU; Wang T.R.; Shu S.G.; Liu S.C. |
| 臺大學術典藏 |
2020-12-16T02:26:25Z |
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with apert syndrome
|
Tsai F.-J.; WUH-LIANG HWU; Lin S.-P.; Chang J.-G.; Wang T.-R.; Tsai C.-H. |
| 臺大學術典藏 |
2020-12-16T02:26:24Z |
3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: Report of one case
|
Lee C.;Tsai F.-J.;Wu J.-Y.;Peng C.-T.;Tsai C.-H.;Wuh-Liang Hwu;Wang T.-R.;Millington D.S.; Lee C.; Tsai F.-J.; Wu J.-Y.; Peng C.-T.; Tsai C.-H.; WUH-LIANG HWU; Wang T.-R.; Millington D.S. |
| 臺大學術典藏 |
2020-12-16T02:26:12Z |
Detection of a homozygous D645E mutation of the acid α-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II [3]
|
Chen C.-P.;Lin S.-P.;Tzen C.-Y.;Tsai F.-J.;Wuh-Liang Hwu;Wang W.; Chen C.-P.; Lin S.-P.; Tzen C.-Y.; Tsai F.-J.; WUH-LIANG HWU; Wang W. |
| 臺大學術典藏 |
2020-12-16T02:26:04Z |
Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations
|
Wan L.;Hsu C.-M.;Tsai C.-H.;Lee C.-C.;Wuh-Liang Hwu;Tsai F.-J.; Wan L.; Hsu C.-M.; Tsai C.-H.; Lee C.-C.; WUH-LIANG HWU; Tsai F.-J. |
| 臺大學術典藏 |
2020-12-16T02:26:01Z |
Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.
|
Lin W.D.;Wuh-Liang Hwu;Liu S.C.;Chen C.P.;Tsai F.J.; Lin W.D.; WUH-LIANG HWU; Liu S.C.; Chen C.P.; Tsai F.J. |
| 臺大學術典藏 |
2020-12-16T02:25:58Z |
Gene symbol: GLA. Disease: Fabry disease.
|
Lin W.D.;Wuh-Liang Hwu;Liu S.C.;Tsai F.J.; Lin W.D.; WUH-LIANG HWU; Liu S.C.; Tsai F.J. |
| 臺大學術典藏 |
2020-12-16T02:25:58Z |
Gene symbol: GCDH. Disease: Glutaricacidaemia I.
|
Lin W.D.;Wuh-Liang Hwu;Wang C.H.;Chen C.P.;Tsai F.J.; Lin W.D.; WUH-LIANG HWU; Wang C.H.; Chen C.P.; Tsai F.J. |
| 臺大學術典藏 |
2020-12-16T02:25:56Z |
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients
|
Lin W.-D.;Lin S.-P.;Wang C.-H.;Wuh-Liang Hwu;Chuang C.-K.;Lin S.-J.;Tsai Y.;Chen C.-P.;Tsai F.-J.; Lin W.-D.; Lin S.-P.; Wang C.-H.; WUH-LIANG HWU; Chuang C.-K.; Lin S.-J.; Tsai Y.; Chen C.-P.; Tsai F.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:56Z |
Early detection of pompe disease by newborn screening is feasible: Results from the Taiwan screening program
|
Chien Y.-H.;Chiang S.-C.;Zhang X.K.;Keutzer J.;Lee N.-C.;Huang A.-C.;Chen C.-A.;Wu M.-H.;Huang P.-H.;Tsai F.-J.;Chen Y.-T.;Wuh-Liang Hwu; Chien Y.-H.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Lee N.-C.; Huang A.-C.; Chen C.-A.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:56Z |
Identification of eight novel mutations of the acid α-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II
|
Wan L.;Lee C.-C.;Hsu C.-M.;Wuh-Liang Hwu;Yang C.-C.;Tsai C.-H.;Tsai F.-J.; Wan L.; Lee C.-C.; Hsu C.-M.; WUH-LIANG HWU; Yang C.-C.; Tsai C.-H.; Tsai F.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:51Z |
Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004
|
Lin H.-Y.; Lin S.-P.; Chuang C.-K.; Niu D.-M.; Chen M.-R.; Tsai F.-J.; Chao M.-C.; Chiu P.-C.; Lin S.-J.; Tsai L.-P.; WUH-LIANG HWU; Lin J.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:49Z |
Pompe disease in infants: Improving the prognosis by newborn screening and early treatment
|
Chien Y.-H.; Lee N.-C.; Thurberg B.L.; Chiang S.-C.; Zhang X.K.; Keutzer J.; Huang A.-C.; Wu M.-H.; Huang P.-H.; Tsai F.-J.; Chen Y.-T.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:48Z |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan
|
Lin H.-Y.;Chen M.-R.;Chuang C.-K.;Chen C.-P.;Lin D.-S.;Chien Y.-H.;Ke Y.-Y.;Tsai F.-J.;Pan H.-P.;Lin S.-J.;Wuh-Liang Hwu;Niu D.-M.;Lee N.-C.;Lin S.-P.; Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:46Z |
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome
|
Lin S.-P.; Chao M.-C.; Tsai Y.; Tsai F.-J.; Lin W.-D.;Chou I.-C.;Lee N.-C.;Wang C.-H.;Wuh-Liang Hwu;Lin S.-P.;Chao M.-C.;Tsai Y.;Tsai F.-J.; Lin W.-D.; Chou I.-C.; Lee N.-C.; Wang C.-H.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry
|
Hsu W.-Y.;Lin W.-D.;Wuh-Liang Hwu;Lai C.-C.;Tsai F.-J.; Hsu W.-Y.; Lin W.-D.; WUH-LIANG HWU; Lai C.-C.; Tsai F.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:44Z |
Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease
|
Chien Y.-H.;Lee N.-C.;Tsai F.-J.;Chao M.-C.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Tsai F.-J.; Chao M.-C.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:43Z |
Later-onset pompe disease: Early detection and early treatment initiation enabled by newborn screening
|
Chien Y.-H.;Lee N.-C.;Huang H.-J.;Thurberg B.L.;Tsai F.-J.;Wuh-Liang Hwu; Chien Y.-H.; Lee N.-C.; Huang H.-J.; Thurberg B.L.; Tsai F.-J.; WUH-LIANG HWU |
| 臺大學術典藏 |
2020-12-16T02:25:29Z |
Erratum: Enzyme replacement therapy for mucopolysaccharidosis VI - Experience in Taiwan (Journal of Inherited Metabolic Disease DOI: 10.1007/s20545-101-9212-5)
|
Lin H.-Y.; Chen M.-R.; Chuang C.-K.; Chen C.-P.; Lin D.-S.; Chien Y.-H.; Ke Y.-Y.; Tsai F.-J.; Pan H.-P.; Lin S.-J.; WUH-LIANG HWU; Niu D.-M.; Lee N.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:28Z |
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.; WUH-LIANG HWU |
