| 臺大學術典藏 |
2022-03-31T02:39:25Z |
A whole genome methylation analysis of systemic lupus erythematosus: Hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity
|
Lin S.-Y.; Hsieh S.-C.; Lin Y.-C.; Lee C.-N.; Tsai M.-H.; Lai L.-C.; Chuang E.Y.; PAU-CHUNG CHEN; Hung C.-C.; Chen L.-Y.; Hsieh W.S.; Niu D.-M.; Su Y.-N.; Ho H.-N. |
| 臺大學術典藏 |
2022-02-15T03:21:50Z |
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese.
|
Hwang H.W.; JIEN-JIUN CHEN; Lin Y.J.; Shieh R.C.; Lee M.T.; Hung S.I.; Wu J.Y.; Chen Y.T.; Niu D.M.; Hwang B.T. |
| 臺大學術典藏 |
2021-09-09T07:52:51Z |
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
|
Hung C.-C.; Lin S.-Y.; Lee C.-N.; Cheng H.-Y.; Lin C.-Y.; Chang C.-H.; Chiu H.-H.; CHIH-CHIEH YU; Lin S.-P.; Cheng W.-F.; Ho H.-N.; Niu D.-M.; Su Y.-N. |
| 臺大學術典藏 |
2021-09-09T07:52:50Z |
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
|
Hung C.-C.; Lin S.-Y.; Lee C.-N.; Cheng H.-Y.; Lin S.-P.; Chen M.-R.; Chen C.-P.; Chang C.-H.; Lin C.-Y.; CHIH-CHIEH YU; Chiu H.-H.; Cheng W.-F.; Ho H.-N.; Niu D.-M.; Su Y. |
| 臺大學術典藏 |
2021-06-09T08:12:18Z |
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
|
Lin H.-Y.;Lee C.-L.;Chang C.-Y.;Chiu P.C.;Chien Y.-H.;Niu D.-M.;Tsai F.-J.;Wuh-Liang Hwu;Lin S.J.;Lin J.-L.;Chao M.-C.;Chang T.-M.;Tsai W.-H.;Wang T.-J.;Chuang C.-K.;Lin S.-P.; Lin H.-Y.; Lee C.-L.; Chang C.-Y.; Chiu P.C.; Chien Y.-H.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; 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 |
2021-02-04T06:04:55Z |
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
|
Lin S.-Y.;Chien-Nan Lee;Hung C.-C.;Tsai W.-Y.;Lin S.-P.;Li N.-C.;Hsieh W.-S.;Tung Y.-C.;Niu D.-M.;Hsu W.-M.;Chen L.-Y.;Fang M.-Y.;Tu M.-P.;Kuo P.-W.;Lin C.-Y.;Su Y.-N.;Ho H.-N.; Lin S.-Y.; CHIEN-NAN LEE; Hung C.-C.; Tsai W.-Y.; Lin S.-P.; Li N.-C.; Hsieh W.-S.; Tung Y.-C.; Niu D.-M.; Hsu W.-M.; 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 |
2021-01-15T02:46:26Z |
A whole genome methylation analysis of systemic lupus erythematosus: Hypomethylation of the IL10 and IL1R2 promoters is associated with disease activity
|
Lin S.-Y.; SONG-CHOU HSIEH; Lin Y.-C.; 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.; Ho H.-N. |
| 臺大學術典藏 |
2021-01-08T06:17:24Z |
Epigenetic profiling of the H19 differentially methylated region and comprehensive whole genome array-based analysis in Silver-Russell syndrome
|
Lin S.-Y.;Lee C.-N.;Hung C.-C.;Tsai W.-Y.;Lin S.-P.;Li N.-C.;Hsieh W.-S.;Yi-Ching Tung;Niu D.-M.;Hsu W.-M.;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.; YI-CHING TUNG; Niu D.-M.; Hsu W.-M.; Chen L.-Y.; Fang M.-Y.; Tu M.-P.; Kuo P.-W.; Lin C.-Y.; Su Y.-N.; Ho H.-N. |
| 國立成功大學 |
2021 |
Epigenotype, genotype, and phenotype analysis of taiwanese patients with silver–russell syndrome
|
Lin, H.-Y.;Lee, C.-L.;Fran, S.;Tu, R.-Y.;Chang, Y.-H.;Niu, D.-M.;Chang, Chang C.-Y.;Chiu, P.-C.;Chou, Y.-Y.;Hsiao, Hsiao H.-P.;Tsai, M.-C.;Chao, M.-C.;Tsai, L.-P.;Yang, C.-F.;Su, P.-H.;Pan, Y.-W.;Lee, C.-H.;Chu, T.-H.;Chuang, Chuang C.-K.;Lin, S.-P. |
| 國立成功大學 |
2021 |
Quantitative dna methylation analysis and epigenotype‐phenotype correlations in taiwanese patients with beckwith‐wiedemann syndrome
|
Lin, H.-Y.;Lee, C.-L.;Fran, S.;Tu, R.-Y.;Chang, Y.-H.;Niu, D.-M.;Chang, Chang C.-Y.;Chiu, P.C.;Chou, Y.-Y.;Hsiao, Hsiao H.-P.;Yang, C.-F.;Tsai, M.-C.;Chu, T.-H.;Chuang, Chuang C.-K.;Lin, S.-P. |
| 臺大學術典藏 |
2020-12-28T10:02:48Z |
Identification of fibrillin-1 gene mutations in Marfan syndrome by high-resolution melting analysis
|
CHIH-CHIEH YU; Chiu H.-H.; Lin C.-Y.; Chang C.-H.; Cheng H.-Y.; Lee C.-N.; Hung C.-C.; Lin S.-Y.; Lin S.-P.; Cheng W.-F.; Ho H.-N.; Niu D.-M.; Su Y.-N. |
| 臺大學術典藏 |
2020-12-28T10:02:47Z |
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome
|
Hung C.-C.; Lin S.-Y.; Lee C.-N.; Cheng H.-Y.; Lin S.-P.; Chen M.-R.; Chen C.-P.; Chang C.-H.; Lin C.-Y.; CHIH-CHIEH YU; Chiu H.-H.; Cheng W.-F.; Ho H.-N.; Niu D.-M.; Su Y. |
| 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 |
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
|
Kao S.-M.; Hwu W.-L.; Ho H.-C.; Chiang C.-C.; Niu D.-M.; YIN-HSIU CHIEN; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. |
| 臺大學術典藏 |
2020-12-24T06:16:38Z |
Two Frequent Mutations Associated with the Classic Form of Propionic Acidemia in Taiwan
|
Chiu Y.-H.; Liu Y.-N.; Liao W.-L.; Chang Y.-C.; Lin S.-P.; Hsu C.-C.; Chiu P.-C.; Niu D.-M.; Wang C.-H.; Ke Y.-Y.; YIN-HSIU CHIEN; Hsiao K.-J.; Liu T.-T. |
| 臺大學術典藏 |
2020-12-24T06:16:34Z |
Measuring propionyl-CoA carboxylase activity in phytohemagglutinin stimulated lymphocytes using high performance liquid chromatography
|
Hsiao K.-J.; Lee N.-C.; Chou Y.-Y.; YIN-HSIU CHIEN; Fan Y.-L.; Niu D.-M.; Liu T.-T.; Liu Y.-N.; Chiu Y.-H. |
| 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 |
2020-12-24T06:16:13Z |
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 |
2020-12-16T02:25:51Z |
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 |
2020-12-16T02:25:48Z |
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 |
2020-12-16T02:25:48Z |
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan
|
Niu D.-M.;Chien Y.-H.;Chiang C.-C.;Ho H.-C.;Wuh-Liang Hwu;Kao S.-M.;Chiang S.-H.;Kao C.-H.;Liu T.-T.;Chiang H.;Hsiao K.-J.; Niu D.-M.; Chien Y.-H.; Chiang C.-C.; Ho H.-C.; WUH-LIANG HWU; Kao S.-M.; Chiang S.-H.; Kao C.-H.; Liu T.-T.; Chiang H.; Hsiao K.-J. |
| 臺大學術典藏 |
2020-12-16T02:25:45Z |
Newborn Screening for Methylmalonic Aciduria by Tandem Mass Spectrometry: 7 Years' Experience From Two Centers in Taiwan
|
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.;Lee N.-C.;Wuh-Liang Hwu;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.; Lee N.-C.; WUH-LIANG HWU; Lin J.-L.; Hung P.-Y.; Niu D.-M. |
| 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 |
2020-12-16T02:25:25Z |
Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA
|
Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Chen M.-R.; Chiu P.C.; Ke Y.-Y.; Niu D.-M.; Tsai F.-J.; WUH-LIANG HWU; Lin J.-L. |
| 臺大學術典藏 |
2020-12-16T02:25:20Z |
Long-term galsulfase enzyme replacement therapy in Taiwanese mucopolysaccharidosis VI patients: A case series
|
Lin H.-Y.;Chuang C.-K.;Wang C.-H.;Chien Y.-H.;Wang Y.-M.;Tsai F.-J.;Chou Y.-Y.;Lin S.J.;Pan H.-P.;Niu D.-M.;Wuh-Liang Hwu;Ke Y.-Y.;Lin S.-P.; Lin H.-Y.; Chuang C.-K.; Wang C.-H.; Chien Y.-H.; Wang Y.-M.; Tsai F.-J.; Chou Y.-Y.; Lin S.J.; Pan H.-P.; Niu D.-M.; WUH-LIANG HWU; Ke Y.-Y.; Lin S.-P. |
| 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
|
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
|
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)
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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.
|
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
|
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]
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
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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.;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
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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.;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. |
