| 臺大學術典藏 |
2020-12-16T02:25:20Z |
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
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Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.-M.; Hung C.-L.; Chang C.-Y.; Chiu P.C.; Tsai W.-H.; Niu D.-M.; Tsai F.-J.; Lin S.J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:19Z |
Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995-2012 Dr. Segolene Ayme
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Lin H.-Y.;Chuang C.-K.;Huang Y.-H.;Tu R.-Y.;Lin F.-J.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Chou Y.-Y.;Tsai W.-H.;Chang T.-M.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Huang Y.-H.; Tu R.-Y.; Lin F.-J.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Chou Y.-Y.; Tsai W.-H.; Chang T.-M.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:14Z |
Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: Data from the hunter outcome survey (HOS)
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Lin H.-Y.;Chuang C.-K.;Chen M.-R.;Lin S.J.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Chien Y.-H.;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Lin S.J.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Chien Y.-H.; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:12Z |
Mucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period
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Fang Y.-Y.; Niu D.-M.; Chiu P.C.; Lo Y.-T.; Tu R.-Y.; Lee C.-L.; Chuang C.-K.; Lin H.-Y.; Lin H.-Y.;Chuang C.-K.;Lee C.-L.;Tu R.-Y.;Lo Y.-T.;Chiu P.C.;Niu D.-M.;Fang Y.-Y.;Chen T.-L.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Chang T.-M.;Lin S.-P.; Chen T.-L.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Chang T.-M.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:10Z |
Functional independence of Taiwanese patients with mucopolysaccharidoses
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Lee C.-L.;Lin H.-Y.;Chuang C.-K.;Chiu H.-C.;Tu R.-Y.;Huang Y.-H.;Wuh-Liang Hwu;Tsai F.-J.;Chiu P.-C.;Niu D.-M.;Chen Y.-J.;Chao M.-C.;Chang T.-M.;Lin J.-L.;Chang C.-Y.;Kao Y.-C.;Lin S.-P.; Lee C.-L.; Lin H.-Y.; Chuang C.-K.; Chiu H.-C.; Tu R.-Y.; Huang Y.-H.; WUH-LIANG HWU; Tsai F.-J.; Chiu P.-C.; Niu D.-M.; Chen Y.-J.; Chao M.-C.; Chang T.-M.; Lin J.-L.; Chang C.-Y.; Kao Y.-C.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:07Z |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
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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.;Wuh-Liang Hwu;Lee N.-C.;Lin S.-P.;Liu C.-S.;Hu R.-H.;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.; WUH-LIANG HWU; Lee N.-C.; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M. |
| 臺大學術典藏 |
2020-12-16T02:25:06Z |
Ophthalmologic manifestations in Taiwanese patients with mucopolysaccharidoses
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Lin H.-Y.;Chan W.-C.;Chen L.-J.;Lee Y.-C.;Yeh S.-I.;Niu D.-M.;Chiu P.C.;Tsai W.-H.;Wuh-Liang Hwu;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Chan W.-C.; Chen L.-J.; Lee Y.-C.; Yeh S.-I.; Niu D.-M.; Chiu P.C.; Tsai W.-H.; WUH-LIANG HWU; Chuang C.-K.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:06Z |
Long-term effects of enzyme replacement therapy for Taiwanese patients with mucopolysaccharidosis IVA
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Lin H.-Y.;Chuang C.-K.;Ke Y.-Y.;Hsu C.-C.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin J.-L.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Ke Y.-Y.; Hsu C.-C.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-16T02:25:02Z |
Relationships among height, weight, body mass index, and age in taiwanese children with different types of mucopolysaccharidoses
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Lin H.-Y.;Lee C.-L.;Chiu P.C.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chang T.-M.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chiu P.C.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin S.J.; Lin J.-L.; Chang T.-M.; Chuang C.-K.; Lin S.-P. |
| 臺大學術典藏 |
2020-12-09T01:38:44Z |
Corneal lesion as the initial manifestation of tyrosinemia type II
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Tsai C.-P.;Lin P.-Y.;Ni-Chung Lee;Niu D.-M.;Lee S.-M.;Hsu W.-M.; Tsai C.-P.; Lin P.-Y.; NI-CHUNG LEE; Niu D.-M.; Lee S.-M.; Hsu W.-M. |
| 臺大學術典藏 |
2020-12-09T01:38:44Z |
Long-term follow-up of Chinese patients who received delayed treatment for 6-pyruvoyl-tetrahydropterin synthase deficiency
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Hsiao K.-J.; Chiu P.-C.; Niu D.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Ni-Chung Lee;Cheng L.-Y.;Liu T.-T.;Hsiao K.-J.;Chiu P.-C.;Niu D.-M. |
| 臺大學術典藏 |
2020-12-09T01:38:44Z |
Intrafamilial phenotype variation in Marfan syndrome ascertained by intragenic linkage analysis.
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Ni-Chung Lee;Hwang B.;Chen C.H.;Niu D.M.; NI-CHUNG LEE; Hwang B.; Chen C.H.; Niu D.M. |
| 臺大學術典藏 |
2020-12-09T01:38:44Z |
Contributions of bone maturation measurements to the differential diagnosis of neonatal transient hypothyroidism versus dyshormonogenetic congenital hypothyroidism
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Niu D.M.;Hwang B.;Tiu C.M.;Tsai L.P.;Yen J.L.;Ni-Chung Lee;Lin C.-Y.; Niu D.M.; Hwang B.; Tiu C.M.; Tsai L.P.; Yen J.L.; NI-CHUNG LEE; Lin C.-Y. |
| 臺大學術典藏 |
2020-12-09T01:38:43Z |
α-Galactosidase activity should be examined in patients with proteinuria: What have we learned from a family affected with Fabry disease? [5]
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Ni-Chung Lee;Niu D.-M.;Lin C.-Y.;Hsiao K.-J.;Yang A.-H.;Ng Y.-Y.; NI-CHUNG LEE; Niu D.-M.; Lin C.-Y.; Hsiao K.-J.; Yang A.-H.; Ng Y.-Y. |
| 臺大學術典藏 |
2020-12-09T01:38:41Z |
Long-term follow-up of Taiwanese Chinese patients treated early for 6-pyruvoyl-tetrahydropterin synthase deficiency
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Liu K.-M.;Liu T.-T.;Ni-Chung Lee;Cheng L.-Y.;Hsiao K.-J.;Niu D.-M.; Liu K.-M.; Liu T.-T.; NI-CHUNG LEE; Cheng L.-Y.; Hsiao K.-J.; Niu D.-M. |
| 臺大學術典藏 |
2020-12-09T01:38:38Z |
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR
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Hung C.-C.;Lin S.-Y.;Lin S.-P.;Niu D.-M.;Ni-Chung Lee;Cheng W.-F.;Chen C.-P.;Lin W.-L.;Lee C.-N.;Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; NI-CHUNG LEE; Cheng W.-F.; Chen C.-P.; Lin W.-L.; Lee C.-N.; Su Y.-N. |
| 臺大學術典藏 |
2020-12-09T01:38:36Z |
Enzyme replacement therapy for mucopolysaccharidosis VI-experience in Taiwan
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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.;Hwu W.-L.;Niu D.-M.;Ni-Chung Lee;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.; Hwu W.-L.; Niu D.-M.; NI-CHUNG LEE; Lin S.-P. |
| 臺大學術典藏 |
2020-12-09T01:38:35Z |
Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
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Hung P.-Y.; Niu D.-M.; Cheng K.-H.;Liu M.-Y.;Kao C.-H.;Chen Y.-J.;Hsiao K.-J.;Liu T.-T.;Lin H.-Y.;Huang C.-H.;Chiang C.-C.;Ho H.-J.;Lin S.-P.;Ni-Chung Lee;Hwu W.-L.;Lin J.-L.;Hung P.-Y.;Niu D.-M.; Cheng K.-H.; Liu M.-Y.; Kao C.-H.; Chen Y.-J.; Hsiao K.-J.; Liu T.-T.; Lin H.-Y.; Huang C.-H.; Chiang C.-C.; Ho H.-J.; Lin S.-P.; NI-CHUNG LEE; Hwu W.-L.; Lin J.-L. |
| 臺大學術典藏 |
2020-12-09T01:38:22Z |
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
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Liu T.-T.; Fan Y.-L.; Niu D.-M.; Chien Y.-H.; Chou Y.-Y.; NI-CHUNG LEE; Hsiao K.-J.; Chiu Y.-H.; Liu Y.-N. |
| 臺大學術典藏 |
2020-12-09T01:38:11Z |
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.;Ni-Chung Lee;Lin S.-P.;Liu C.-S.;Hu R.-H.;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.; NI-CHUNG LEE; Lin S.-P.; Liu C.-S.; Hu R.-H.; Ho M.-C.; Niu D.-M. |
| 臺大學術典藏 |
2020-04-16T02:34:31Z |
A whole genome methylation analysis of systemic lupus erythematosus: Hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity
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Lin, S.-Y.; Hsieh, S.-C.; Lin, Y.-C.; Ho, H.-N.; ERIC YAO-YU CHUANG; Lee, C.-N.; Tsai, M.-H.; Lai, L.-C.; Chuang, E.Y.; Chen, P.-C.; Hung, C.-C.; Chen, L.-Y.; Hsieh, W.S.; Niu, D.-M.; Su, Y.-N. |
| 臺大學術典藏 |
2020-03-05T03:20:25Z |
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
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Lin S.-Y.;Lee C.-N.;Hung C.-C.;Tsai W.-Y.;Lin S.-P.;Li N.-C.;Hsieh W.-S.;Tung Y.-C.;Niu D.-M.;Wen-Ming Hsu;Chen L.-Y.;Fang M.-Y.;Tu M.-P.;Kuo P.-W.;Lin C.-Y.;Su Y.-N.;Ho H.-N.; Lin S.-Y.; Lee C.-N.; Hung C.-C.; Tsai W.-Y.; Lin S.-P.; Li N.-C.; Hsieh W.-S.; Tung Y.-C.; Niu D.-M.; WEN-MING HSU; Chen L.-Y.; Fang M.-Y.; Tu M.-P.; Kuo P.-W.; Lin C.-Y.; Su Y.-N.; Ho H.-N. |
| 臺大學術典藏 |
2020-02-26T09:00:59Z |
Identification of CpG methylation of the SNRPN gene by methylation-specific multiplex PCR
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Hung C.-C.;Lin S.-Y.;Lin S.-P.;Niu D.-M.;Lee N.-C.;Cheng W.-F.;Chen C.-P.;Win-Li Lin;Lee C.-N.;Su Y.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Niu D.-M.; Lee N.-C.; Cheng W.-F.; Chen C.-P.; Win-Li Lin; Lee C.-N.; Su Y.-N. |
| 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 |
2020-02-19T09:33:39Z |
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. |
