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"yin hsiu chien"的相關文件
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| 臺大學術典藏 |
2020-12-24T06:16:15Z |
Early initiation of high-dose oral ambroxol in combination with enzyme replacement therapy in a neuropathic Gaucher infant
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YIN-HSIU CHIEN; Wang P.-J.; Chien C.-C.; Hwu W.-L.; Chu S.-Y. |
| 臺大學術典藏 |
2020-12-24T06:16:15Z |
Newborn screening for Morquio disease and other lysosomal storage diseases: Results from the 8-plex assay for 70,000 newborns
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YIN-HSIU CHIEN; Lee N.-C.; Chen P.-W.; Yeh H.-Y.; Gelb M.H.; Chiu P.-C.; Chu S.-Y.; Lee C.-H.; Lee A.-R.; Hwu W.-L. |
| 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
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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 |
2020-12-24T06:16:14Z |
Lessons for the clinical nephrologist: dietary management of adult-onset type II citrullinemia in chronic kidney disease: a nutritional dilemma
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YIN-HSIU CHIEN; Yang F.-J.; Weng H.-L.; Chen P.-R.; Lin Z.-X.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:14Z |
Frequency and spectrum of actionable pathogenic secondary findings in Taiwanese exomes
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Lee N.-C.; Lai F.; Lin I.-L.; Kuo C.-W.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Hung M.-Z. |
| 臺大學術典藏 |
2020-12-24T06:16:14Z |
Clinical, radiological, and genetic characteristics in patients with Huntington's disease in a Taiwanese cohort
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Lin C.-H.; Hwu W.-L.; YIN-HSIU CHIEN; Lee N.-C.; Chen S.-J.; Lee B.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:13Z |
Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985–2019)
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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 |
2020-12-24T06:16:13Z |
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders
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Nagamani S.C.S.; Garcia-Cazorla A.; Hoffmann G.F.; de Lonlay P.; Gleich F.; Gropman A.L.; Garbade S.F.; Posset R.; YIN-HSIU CHIEN; Schiff M.; Bari? I.; Augoustides-Savvopoulou P.; Ruiz?Gomez A.; Sykut-Cegielska J.; Couce M.L.; Blasco-Alonso J.; Karall D.; M?tze U.; Williams M.; Dionisi-Vici C.; Lund A.M.; Pedr?n-Giner C.; Le?o?Teles E.; Baumgartner M.R.; Schulze A.; Dobbelaere D.; Yudkoff M.; K?lker S.; Zielonka M.; Ah?Mew N.; Berry S.A.; McCandless S.E.; Coughlin C.; Enns G.; Gallagher R.C.; Burrage L.C.; Seminara J.; Harding C.O.; Burgard P.; Le?Mons C.; Merritt J.L.; II, Stricker T.; Bedoyan J.K.; Berry G.T.; Diaz G.A.; Wong D.; Tuchman M.; Waisbren S.; Weisfeld-Adams J.D.; Burlina A.B.; Lindner M.; Chabrol B.; Skouma A.; Zeman J.; Sokal E.; Santer R.; Eyskens F.; Freisinger P.; Pe?a-Quintana L.; Roland D.; Cort?s-Saladelafont E.; Djordjevic M.; Urea Cycle Disorders Consortium (UCDC), European registry; network for Intoxication type Metabolic Diseases (E-IMD) |
| 臺大學術典藏 |
2020-12-24T06:16:13Z |
Ultrastructural and diffusion tensor imaging studies reveal axon abnormalities in Pompe disease mice
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Lee N.-C.; Peng W.-H.; Tsai L.-K.; Lu Y.-H.; Wang H.-C.; Shih Y.-C.; Pung Z.-X.; Hu H.-Y.; Hwu W.-L.; Tseng W.-Y.I.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:12Z |
Dietary intake and nutritional status of patients with phenylketonuria in Taiwan
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YIN-HSIU CHIEN; Lee N.-C.; Chen P.-R.; Hwu W.-L.; Yang F.-J.; Weng H.-L. |
| 臺大學術典藏 |
2020-12-16T03:51:01Z |
Applying International Classification of Functioning, Disability and Health Model to Describe the Health Status and Environmental Factors in Children with Infantile Pompe Disease: A Systematic Review
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Wuh-Liang Hwu;Tze-Hsuan Wang;Yi-Ling Pan;Yu-Hsin Hsieh;Yin-Hsiu Chien;Hsiang-Ju Huang;Hua-Fang Liao; WUH-LIANG HWU; Tze-Hsuan Wang; Yi-Ling Pan; Yu-Hsin Hsieh; Yin-Hsiu Chien; Hsiang-Ju Huang; Hua-Fang Liao |
| 臺大學術典藏 |
2020-12-16T03:43:51Z |
The Ethical Issues and National Policy in Population-based Genetic Screening
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WUH-LIANG HWU; Daniel Fu-Chang Tsai; Lo-Yun Chung; Yin-Hsiu Chien |
| 臺大學術典藏 |
2020-02-26T08:04:56Z |
大規模人口遺傳疾病篩檢之倫理議題與國家政策
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蔡甫昌; 鍾珞筠; 簡穎秀; 胡務亮; DANIEL FU-CHANG TSAI; Lo-Yun Chung; Yin-Hsiu Chien; Wuh-Liang Hwu |
| 臺大學術典藏 |
2020-02-26T08:04:52Z |
非醫療目的基因檢測之倫理議題
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DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yen-Hou Liao; Hung Chih-Yu Wang; Yin-Hsiu Chien; Wuh-Liang Hwu; Daniel Fu-Chang Tsai;Yu-Chen Juang;Yen-Hou Liao;Hung Chih-Yu Wang;Yin-Hsiu Chien;Wuh-Liang Hwu |
| 臺大學術典藏 |
2020-02-26T08:04:52Z |
非醫療目的基因檢測之倫理議題
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DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yen-Hou Liao; Hung Chih-Yu Wang; Yin-Hsiu Chien; Wuh-Liang Hwu; Daniel Fu-Chang Tsai;Yu-Chen Juang;Yen-Hou Liao;Hung Chih-Yu Wang;Yin-Hsiu Chien;Wuh-Liang Hwu |
| 臺大學術典藏 |
2020 |
The timely needs for infantile onset pompe disease newborn screening—practice in Taiwan
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Chiang S.-C.; YIN-HSIU CHIEN; Chang K.-L.; Lee N.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
Turner syndrome and cardiovascular anomalies: Care for girls and women
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Chiu H.-H.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020 |
Thyroid disorders in Taiwanese children with Down syndrome: The experience of a single medical center
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Liu M.-Y.; Lee C.-T.; Lee N.-C.; Tung Y.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tsai W.-Y. |
| 臺大學術典藏 |
2020 |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
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YIN-HSIU CHIEN; Lee N.-C.; Lee W.-T.; Weng W.-C.; Hsu Y.-K.; Chang F.-M.; Lin C.-Y.; Hwu W.-L. |
| 臺大學術典藏 |
2020 |
Development of newborn screening for pompe disease
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YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2019-10-15T01:56:03Z |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
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PO-HUANG LEE; PO-HUANG LEE;YEN-HSUAN NI;YIN-HSIU CHIEN;NI-CHUNG LEE;MING-CHIH HO;WUH-LIANG ??HWU;Chen, P W; Chen, P W; WUH-LIANG ??HWU; MING-CHIH HO; NI-CHUNG LEE; YIN-HSIU CHIEN; YEN-HSUAN NI |
| 臺大學術典藏 |
2019-10-15T01:56:03Z |
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
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PO-HUANG LEE; PO-HUANG LEE;YEN-HSUAN NI;YIN-HSIU CHIEN;NI-CHUNG LEE;MING-CHIH HO;WUH-LIANG ??HWU;Chen, P W; Chen, P W; WUH-LIANG ??HWU; MING-CHIH HO; NI-CHUNG LEE; YIN-HSIU CHIEN; YEN-HSUAN NI |
| 臺大學術典藏 |
2019-10-14T05:56:44Z |
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
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Niu, Dau-Ming;MING-CHIH HO;REY-HENG HU;Liu, Chin-Su;Lin, Shuan-Pei;NI-CHUNG LEE;WUH-LIANG HWU;Yang, Chia-Feng;Lin, Niang-Cheng;Chiang, Chuan-Chi;Lai, Chih-Jou;Ho, Huey-Jane;Liao, Hsuan-Chieh;Lin, Hsiang-Yu;YIN-HSIU CHIEN;Chu, Tzu-Hung; Chu, Tzu-Hung; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Liao, Hsuan-Chieh; Ho, Huey-Jane; Lai, Chih-Jou; Chiang, Chuan-Chi; Lin, Niang-Cheng; Yang, Chia-Feng; WUH-LIANG ??HWU; NI-CHUNG LEE; Lin, Shuan-Pei; Liu, Chin-Su; REY-HENG HU; MING-CHIH HO; Niu, Dau-Ming |
| 臺大學術典藏 |
2019-10-14T05:56:44Z |
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
Niu, Dau-Ming;MING-CHIH HO;REY-HENG HU;Liu, Chin-Su;Lin, Shuan-Pei;NI-CHUNG LEE;WUH-LIANG HWU;Yang, Chia-Feng;Lin, Niang-Cheng;Chiang, Chuan-Chi;Lai, Chih-Jou;Ho, Huey-Jane;Liao, Hsuan-Chieh;Lin, Hsiang-Yu;YIN-HSIU CHIEN;Chu, Tzu-Hung; Chu, Tzu-Hung; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Liao, Hsuan-Chieh; Ho, Huey-Jane; Lai, Chih-Jou; Chiang, Chuan-Chi; Lin, Niang-Cheng; Yang, Chia-Feng; WUH-LIANG ??HWU; NI-CHUNG LEE; Lin, Shuan-Pei; Liu, Chin-Su; REY-HENG HU; MING-CHIH HO; Niu, Dau-Ming |
| 臺大學術典藏 |
2019-10-03T08:04:03Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
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WEN-YIH ISAAC TSENG;HON-MAN LIU;WUH-LIANG HWU;YIN-HSIU CHIEN;Peng, S.S.-F.; Peng, S.S.-F.; WEN-YIH ISAAC TSENG; YIN-HSIU CHIEN; WUH-LIANG ??HWU; HON-MAN LIU |
| 臺大學術典藏 |
2019-10-03T08:04:03Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
WEN-YIH ISAAC TSENG;HON-MAN LIU;WUH-LIANG HWU;YIN-HSIU CHIEN;Peng, S.S.-F.; Peng, S.S.-F.; WEN-YIH ISAAC TSENG; YIN-HSIU CHIEN; WUH-LIANG ??HWU; HON-MAN LIU |
| 臺大學術典藏 |
2019-10-03T05:41:06Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
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WUH-LIANG HWU;WEN-YIH ISAAC TSENG;Peng, Shinn Forng;Hsu, Yung Chin;NI-CHUNG LEE;YIN-HSIU CHIEN;Tseng, Chih Hsien; Tseng, Chih Hsien; YIN-HSIU CHIEN; NI-CHUNG LEE; Hsu, Yung Chin; Peng, Shinn Forng; WEN-YIH ISAAC TSENG; WUH-LIANG ??HWU |
| 臺大學術典藏 |
2019-10-03T05:41:06Z |
Gene therapy improves brain white matter in aromatic l-amino acid decarboxylase deficiency
|
WUH-LIANG HWU;WEN-YIH ISAAC TSENG;Peng, Shinn Forng;Hsu, Yung Chin;NI-CHUNG LEE;YIN-HSIU CHIEN;Tseng, Chih Hsien; Tseng, Chih Hsien; YIN-HSIU CHIEN; NI-CHUNG LEE; Hsu, Yung Chin; Peng, Shinn Forng; WEN-YIH ISAAC TSENG; WUH-LIANG ??HWU |
| 臺大學術典藏 |
2019-09-16T05:37:57Z |
REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample
|
WUH-LIANG ??HWU;YI-CHEN CHEN;PEI-LIN LEE;CHI-LING CHEN;YIN-HSIU CHIEN;Chien, Chun-Chin;Huang, Po-Tsang;Chang, Lih-Maan;Hsu, Wei-Chung;NI-CHUNG LEE; NI-CHUNG LEE; Hsu, Wei-Chung; Chang, Lih-Maan; YI-CHEN CHEN; Huang, Po-Tsang; Chien, Chun-Chin; YIN-HSIU CHIEN; CHI-LING CHEN; WUH-LIANG ??HWU; PEI-LIN LEE |
| 臺大學術典藏 |
2019-09-16T05:37:57Z |
REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample
|
WUH-LIANG ??HWU;YI-CHEN CHEN;PEI-LIN LEE;CHI-LING CHEN;YIN-HSIU CHIEN;Chien, Chun-Chin;Huang, Po-Tsang;Chang, Lih-Maan;Hsu, Wei-Chung;NI-CHUNG LEE; NI-CHUNG LEE; Hsu, Wei-Chung; Chang, Lih-Maan; YI-CHEN CHEN; Huang, Po-Tsang; Chien, Chun-Chin; YIN-HSIU CHIEN; CHI-LING CHEN; WUH-LIANG ??HWU; PEI-LIN LEE |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
|
NI-CHUNG LEE;Ho, Matthew Sai Pong;Chung, Brian Hon Yin;Yu, Mullin Ho Chung;Lin, Shuan Pei;Fung, Jasmine Lee Fong;Chong, Shuk Ching;Kwong, Anna Ka Yee;Hui, Joannie;Lam, Wendy;Chan, Victor Chi Man;Tsoi, Cheung;Chou, Yen Yin;Willis, Brooke;Tse, Donald M.L.;Fung, Cheuk Wing;Smeitink, Jan;WUH-LIANG HWU;Rodenburg, Richard J.T.;Mak, Christopher Chun Yu;YIN-HSIU CHIEN;Lai, Sophie;Quinzii, Catarina M.;Kuo, Pao Lin;Yeung, Kit San;Tsang, Mandy Ho Yin; Tsang, Mandy Ho Yin; Yeung, Kit San; Kuo, Pao Lin; Quinzii, Catarina M.; Lai, Sophie; YIN-HSIU CHIEN; Mak, Christopher Chun Yu; Rodenburg, Richard J.T.; WUH-LIANG ??HWU; Smeitink, Jan; Fung, Cheuk Wing; Tse, Donald M.L.; Willis, Brooke; Chou, Yen Yin; Tsoi, Cheung; Chan, Victor Chi Man; Lam, Wendy; Hui, Joannie; Kwong, Anna Ka Yee; Chong, Shuk Ching; Fung, Jasmine Lee Fong; Lin, Shuan Pei; Yu, Mullin Ho Chung; Chung, Brian Hon Yin; Ho, Matthew Sai Pong; NI-CHUNG LEE |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
|
NI-CHUNG LEE;Ho, Matthew Sai Pong;Chung, Brian Hon Yin;Yu, Mullin Ho Chung;Lin, Shuan Pei;Fung, Jasmine Lee Fong;Chong, Shuk Ching;Kwong, Anna Ka Yee;Hui, Joannie;Lam, Wendy;Chan, Victor Chi Man;Tsoi, Cheung;Chou, Yen Yin;Willis, Brooke;Tse, Donald M.L.;Fung, Cheuk Wing;Smeitink, Jan;WUH-LIANG HWU;Rodenburg, Richard J.T.;Mak, Christopher Chun Yu;YIN-HSIU CHIEN;Lai, Sophie;Quinzii, Catarina M.;Kuo, Pao Lin;Yeung, Kit San;Tsang, Mandy Ho Yin; Tsang, Mandy Ho Yin; Yeung, Kit San; Kuo, Pao Lin; Quinzii, Catarina M.; Lai, Sophie; YIN-HSIU CHIEN; Mak, Christopher Chun Yu; Rodenburg, Richard J.T.; WUH-LIANG ??HWU; Smeitink, Jan; Fung, Cheuk Wing; Tse, Donald M.L.; Willis, Brooke; Chou, Yen Yin; Tsoi, Cheung; Chan, Victor Chi Man; Lam, Wendy; Hui, Joannie; Kwong, Anna Ka Yee; Chong, Shuk Ching; Fung, Jasmine Lee Fong; Lin, Shuan Pei; Yu, Mullin Ho Chung; Chung, Brian Hon Yin; Ho, Matthew Sai Pong; NI-CHUNG LEE |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
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Llerena, Juan;YIN-HSIU CHIEN;Kishnani, Priya S.;Araujo, Roberto;Toscano, Antonio;Clemens, Paula R.;Maruti, Sonia S.;Periquet, Magali;Leslie, Nancy;Reuser, Arnold J.J.;Kimonis, Virginia E.;Sanson, Bernd Jan;Abbott, Mary Alice;van der Ploeg, Ans T.; van der Ploeg, Ans T.; Abbott, Mary Alice; Sanson, Bernd Jan; Kimonis, Virginia E.; Reuser, Arnold J.J.; Leslie, Nancy; Periquet, Magali; Maruti, Sonia S.; Clemens, Paula R.; Toscano, Antonio; Araujo, Roberto; Kishnani, Priya S.; YIN-HSIU CHIEN; Llerena, Juan |
| 臺大學術典藏 |
2019-09-09T00:55:33Z |
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
|
Llerena, Juan;YIN-HSIU CHIEN;Kishnani, Priya S.;Araujo, Roberto;Toscano, Antonio;Clemens, Paula R.;Maruti, Sonia S.;Periquet, Magali;Leslie, Nancy;Reuser, Arnold J.J.;Kimonis, Virginia E.;Sanson, Bernd Jan;Abbott, Mary Alice;van der Ploeg, Ans T.; van der Ploeg, Ans T.; Abbott, Mary Alice; Sanson, Bernd Jan; Kimonis, Virginia E.; Reuser, Arnold J.J.; Leslie, Nancy; Periquet, Magali; Maruti, Sonia S.; Clemens, Paula R.; Toscano, Antonio; Araujo, Roberto; Kishnani, Priya S.; YIN-HSIU CHIEN; Llerena, Juan |
| 臺大學術典藏 |
2019 |
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry
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Pe?a-Quintana L.; Schiff M.; M?hlhausen C.; Matsumoto S.; de Meirleir L.; De Laet C.; Lachmann R.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Bari? I.; Lund A.M.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Cazorla A.G.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Ortega D.G.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Additional individual contributors from E-IMD |
| 臺大學術典藏 |
2019 |
Heterogeneous nonataxic phenotypes of spinocerebellar ataxia in a Taiwanese population
|
Lee N.-C.; Chen S.-J.; YIN-HSIU CHIEN; Hwu W.-L.; Lin C.-H. |
| 臺大學術典藏 |
2019 |
Methylmalonic acidemia/propionic acidemia - The biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
|
Niu D.-M.; Ho M.-C.; Hu R.-H.; Liu C.-S.; Lin S.-P.; Lee N.-C.; Hwu W.-L.; Yang C.-F.; Lin N.-C.; Chiang C.-C.; Chu T.-H.; YIN-HSIU CHIEN; Lin H.-Y.; Liao H.-C.; Ho H.-J.; Lai C.-J. |
| 臺大學術典藏 |
2019 |
Mycobacterium abscessus infection in a boy with X-linked anhidrotic ectodermal dysplasia, immunodeficiency
|
Yu H.-H.; Hu T.-C.; Lee N.-C.; YIN-HSIU CHIEN; Yang Y.-H.; Hwu W.-L.; Chiang B.-L. |
| 臺大學術典藏 |
2019 |
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
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Muntau A.C.; Adams D.J.; B?langer-Quintana A.; Bushueva T.V.; Cerone R.; YIN-HSIU CHIEN; Chiesa A.; Co?kun T.; de las Heras J.; Feillet F.; Katz R.; Lagler F.; Piazzon F.; Rohr F.; van Spronsen F.J.; Vargas P.; Wilcox G.; Bhattacharya K. |
| 臺大學術典藏 |
2019 |
Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
|
de Meirleir L.; Matsumoto S.; De Laet C.; Scholl-B?rgi S.; Karall D.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Chakrapani A.; Gr?newald S.; Mention K.; Dobbelaere D.; Martinelli D.; Dionisi-Vici C.; Saladelafont E.C.I.; Cazorla A.G.; Molema F.; Gleich F.; Burgard P.; van der Ploeg A.T.; Summar M.L.; Chapman K.A.; Lund A.M.; Rizopoulos D.; K?lker S.; Williams M.; H?rster F.; Jelsig A.M.; de Lonlay P.; Wijburg F.A.; Bosch A.; Freisinger P.; Posset R.; Augoustides-Savvopoulou P.; Avram P.; Deleanu C.; Baumgartner M.R.; H?berle J.; Blasco-Alonso J.; Burlina A.B.; Rubert L.; Additional individual contributors from E-IMD; Schiff M.; Pe?a-Quintana L.; Djordjevic M.; Sarajlija A.; Sykut-Cegielska J.; Wisniewska A.; Leao-Teles E.; Alves S.; Vara R.; Vives-Pinera I.; Gil-Ortega D.; Morris A.; Zeman J.; Honzik T.; Chabrol B.; Arnaudo F.; Cano A.; Thompson N.; Eyskens F.; Lindner M.; L?sebrink N.; Jalan A.; Sokal E.; Legros V.; Nassogne M.C.; Bari? I. |
| 臺大學術典藏 |
2019 |
Next-generation sequencing identifies TRPV4-related skeletal dysplasia in a boy with progressive bowlegs
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Hsu R.-H.; Hwu W.-L.; Chen M.; Chung I.-F.; Peng S.S.-F.; Chen C.-Y.; Cheng W.-C.; YIN-HSIU CHIEN; Lee N.-C. |
| 臺大學術典藏 |
2018-09-10T18:02:45Z |
Longitudinal follow-up to evaluate speech disorders in early-treated patients with infantile-onset Pompe disease
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Yin-Ting Zeng and Wuh-Liang Hwu and Pao-Chuan Torng and Ni-Chung Lee and Jeng-Yi Shieh and Lu Lu and Yin-Hsiu Chien; NI-CHUNG LEE; JENG-YI SHIEH; LU LU; YIN-HSIU CHIEN; WUH-LIANG HWU |
| 臺大學術典藏 |
2018-09-10T15:37:01Z |
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, Hsiang-Yu;Chuang, Chih-Kuang;Huang, Yu-Hsiu;Tu, Ru-Yi;Lin, Fang-Ju;Lin, Shio Jean;Chiu, Pao Chin;Niu, Dau-Ming;Tsai, Fuu-Jen;Hwu, Wuh-Liang;Chien, Yin-Hsiu;Lin, Ju-Li;Chou, Yen-Yin;Tsai, Wen-Hui;Chang, Tung-Ming;Lin, Shuan-Pei; Lin, H.-Y. and Chuang, C.-K. and Huang, Y.-H. and Tu, R.-Y. and Lin, F.-J. and Lin, S.J. and Chiu, P.C. and Niu, D.-M. and Tsai, F.-J. and Hwu, W.-L. and Chien, Y.-H. and Lin, J.-L. and Chou, Y.-Y. and Tsai, W.-H. and Chang, T.-M. and Lin, S.-P.; 胡務亮;簡穎秀; YIN-HSIU CHIEN; Lin, Hsiang-Yu; Chuang, Chih-Kuang; WUH-LIANG HWU; Huang, Yu-Hsiu; Tu, Ru-Yi; Lin, Fang-Ju; Lin, Shio Jean; Chiu, Pao Chin; Niu, Dau-Ming; Tsai, Fuu-Jen; Hwu, Wuh-Liang; Chien, Yin-Hsiu; Lin, Ju-Li; Chou, Yen-Yin; Tsai, Wen-Hui; Chang, Tung-Ming; Lin, Shuan-Pei |
| 臺大學術典藏 |
2018-09-10T15:34:03Z |
Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: A muscle magnetic resonance imaging study Dr. Segolene Ayme Dr. Segolene Ayme
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YIN-HSIU CHIEN; Tsai, Fuu-Jen; WUH-LIANG HWU; Tsai, Wen-Hui; Chien, Yin-Hsiu; Lee, Ni-Chung; Peng, Steven Shinn-Forng; Hwu, Wuh-Liang; STEVEN SHINN-FORNG PENG; Peng, S.S.-F. and Hwu, W.-L. and Lee, N.-C. and Tsai, F.-J. and Tsai, W.-H. and Chien, Y.-H.; Peng, Steven Shinn-Forng;Hwu, Wuh-Liang;Lee, Ni-Chung;Tsai, Fuu-Jen;Tsai, Wen-Hui;Chien, Yin-Hsiu; 胡務亮;彭信逢;李妮鍾;簡穎秀; NI-CHUNG LEE |
| 臺大學術典藏 |
2018-09-10T15:26:42Z |
Mortality, disability, and intensive care in patients with mitochondrial 3243A>G mutation
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Wu, Chao-Szu; Lee, Wang-Tso; Lee, Wang-Tso; WEN-CHIN WENG; YIN-HSIU CHIEN; Weng, Wen-Chin; Weng, Wen-Chin; Fan, Pi-Chuan; WUH-LIANG HWU; Fan, Pi-Chuan; Chien, Yin-Hsiu; Chien, Yin-Hsiu; Hwu, Wuh-Liang; Hwu, Wuh-Liang; Hung, Kun-Long; Hung, Kun-Long; Huang, Chao-Ching; Huang, Chao-Ching; Chen, Chih-Hung; Lin, Shio-Jean; Chu, Shao-Yin; Chu, Shao-Yin; Wang, Tzu-Jou; Wang, Tzu-Jou; Lu, Chien-Jung; Lu, Chien-Jung; Lee, Pei-Lin; Lee, Pei-Lin; Wu, Chao-Szu; PEI-LIN LEE; Chai, Huei-Ming; Yang, Chih-Chao; Hsiue, H.-C. and Lee, N.-C. and Tsai, H.-B. and Yang, C.-C. and Wu, C.-S. and Lee, W.-T. and Weng, W.-C. and Fan, P.-C. and Chien, Y.-H. and Hwu, W.-L. and Hung, K.-L. and Huang, C.-C. and Chen, C.-H. and Lin, S.-J. and Chu, S.-Y. and Wang, T.-J. and Lu, C.-J. and Lee, P.-L.; Hsiue, Han-Chung;Lee, Ni-Chung;Tsai, Hung-Bin;Yang, Chih-Chao;Wu, Chao-Szu;Lee, Wang-Tso;Weng, Wen-Chin;Fan, Pi-Chuan;Chien, Yin-Hsiu;Hwu, Wuh-Liang;Hung, Kun-Long;Huang, Chao-Ching;Chen, Chih-Hung;Lin, Shio-Jean;Chu, Shao-Yin;Wang, Tzu-Jou;Lu, Chien-Jung;Lee, Pei-Lin; 胡務亮;楊智超;李佩玲;范碧娟;李旺祚;李妮鍾;薛涵中;簡穎秀;翁妏謹;蔡宏斌; 胡務亮;楊智超;李佩玲;范碧娟;李旺祚;李妮鍾;薛涵中;簡穎秀;翁妏謹;蔡宏斌; Hsiue, Han-Chung; NI-CHUNG LEE; Hsiue, Han-Chung; Lee, Ni-Chung; PI-CHUAN FAN; Lee, Ni-Chung; Tsai, Hung-Bin; WANG-TSO LEE; Tsai, Hung-Bin; HUNG-BIN TSAI; Yang, Chih-Chao |
| 臺大學術典藏 |
2018-09-10T15:26:41Z |
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
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Chien, Yin-Hsiu;Lee, Ni-Chung;Chen, Chun-An;Tsai, Fuu-Jen;Tsai, Wen-Hui;Shieh, Jeng-Yi;Huang, Hsiang-Ju;Hsu, Wei-Chung;Tsai, Tzu-Hsun;Hwu, Wuh-Liang; Yin-Hsiu Chien and Ni-Chung Lee and Chun-An Chen and Fuu-Jen Tsai and Wen-Hui Tsai and Jeng-Yi Shieh and Hsiang-Ju Huang and Wei-Chung Hsu and Tzu-Hsun Tsai and Wuh-Liang Hwu; 胡務亮;許巍鐘;陳俊安;李妮鍾;簡穎秀;謝正宜; CHUN-AN CHEN; Chien, Yin-Hsiu; Lee, Ni-Chung; NI-CHUNG LEE; Chen, Chun-An; JENG-YI SHIEH; TZU-HSUN TSAI; Tsai, Fuu-Jen; YIN-HSIU CHIEN; Tsai, Wen-Hui; Shieh, Jeng-Yi; WUH-LIANG HWU; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Hwu, Wuh-Liang |
| 臺大學術典藏 |
2018-09-10T15:02:31Z |
Outcome of early-treated type III Gaucher disease patients
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Lee, Ni-Chung;Chien, Yin-Hsiu;Wong, Siew-Lee;Sheen, Jiunn-Ming;Tsai, Fuu-Jen;Peng, Shinn-Forng;Leung, Joseph Hang;Chao, Mei-Chyn;Shun, Chia-Tung;Hwu, Wuh-Liang; Lee, N.-C. and Chien, Y.-H. and Wong, S.-L. and Sheen, J.-M. and Tsai, F.-J. and Peng, S.-F. and Leung, J.H. and Chao, M.-C. and Shun, C.-T. and Hwu, W.-L.; 胡務亮;彭信逢;李妮鍾;簡穎秀;孫家棟; Lee, Ni-Chung; NI-CHUNG LEE; YIN-HSIU CHIEN; Chien, Yin-Hsiu; Wong, Siew-Lee; WUH-LIANG HWU; Chang, An-Chen; CHIA-TUNG SHUN; Sheen, Jiunn-Ming; Tsai, Fuu-Jen; Peng, Shinn-Forng; Leung, Joseph Hang; Chao, Mei-Chyn; Shun, Chia-Tung; Hwu, Wuh-Liang; ?^?H?{ |
| 臺大學術典藏 |
2018-09-10T14:50:28Z |
Cyclic pamidronate infusion for neonatal-onset Osteogenesis imperfecta
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Lin, Chia-Hsuan;Chien, Yin-Hsiu;Peng, Shinn-Forng;Tsai, Wen-Yu;Tung, Yi-Ching;Lee, Cheng-Ting;Chien, Chun-Ching;Hwu, Wuh-Liang;Lee, Ni-Chung; Lin, C.-H. and Chien, Y.-H. and Peng, S.-F. and Tsai, W.-Y. and Tung, Y.-C. and Lee, C.-T. and Chien, C.-C. and Hwu, W.-L. and Lee, N.-C.; 蔡文友;胡務亮;童怡靖;彭信逢;李正婷;李妮鍾;簡穎秀; NI-CHUNG LEE; Lin, Chia-Hsuan; YI-CHING TUNG; Chien, Yin-Hsiu; CHENG-TING LEE; Peng, Shinn-Forng; YIN-HSIU CHIEN; Tsai, Wen-Yu; Tung, Yi-Ching; WUH-LIANG HWU; Lee, Cheng-Ting; WEN-YU TSAI; Chien, Chun-Ching; Hwu, Wuh-Liang; Lee, Ni-Chung; �^�H�{ |
| 臺大學術典藏 |
2018-09-10T14:50:14Z |
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism
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胡務亮;吳恩婷;蔡宜蓉;黃書健;李妮鍾;簡穎秀;曹永魁; Tsai, I.-J. and Hwu, W.-L. and Huang, S.-C. and Lee, N.-C. and Wu, E.-T. and Chien, Y.-H. and Tsau, Y.-K.; Tsai, I-Jung;Hwu, Wuh-Liang;Huang, Shu-Chien;Lee, Ni-Chung;Wu, En-Ting;Chien, Yin-Hsiu;Tsau, Yong-Kwei; Tsai, I-Jung; NI-CHUNG LEE; Hwu, Wuh-Liang; YONG-KWEI TSAU; Huang, Shu-Chien; I-JUNG TSAI; YIN-HSIU CHIEN; Lee, Ni-Chung; SHU-CHIEN HUANG; Wu, En-Ting; Chien, Yin-Hsiu; WUH-LIANG HWU; Tsau, Yong-Kwei; EN-TING WU |
| 臺大學術典藏 |
2018-09-10T09:51:20Z |
Long-term follow-up results in patients with classic infantile Pompe disease receiving enzyme therapy since newborn
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Yin-Hsiu Chien and Wuh-Liang Hwu and Ni-Chung Lee and Chun-An Chen and Fuu-Jen Tsai and Wen-Hui Tsai and Hsiang-Ju Huang and Wei-Chung Hsu and Tzu-Hsun Tsai and Jeng-Yi Shieh; Chien, Yin-Hsiu;Hwu, Wuh-Liang;Lee, Ni-Chung;Chen, Chun-An;Tsai, Fuu-Jen;Tsai, Wen-Hui;Huang, Hsiang-Ju;Hsu, Wei-Chung;Tsai, Tzu-Hsun;Shieh, Jeng-Yi; 胡務亮 ;蔡紫薰 ;許巍鐘 ;陳俊安 ;李妮鍾 ;簡穎秀 ;謝正宜; Chien, Yin-Hsiu; YIN-HSIU CHIEN; Hwu, Wuh-Liang; Lee, Ni-Chung; Chen, Chun-An; Tsai, Fuu-Jen; Tsai, Wen-Hui; Huang, Hsiang-Ju; Hsu, Wei-Chung; Tsai, Tzu-Hsun; Shieh, Jeng-Yi |
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