| 臺大學術典藏 |
2020-12-24T06:16:20Z |
A review of aromatic l-amino acid decarboxylase (AADC) deficiency in Taiwan
|
Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:16:20Z |
Rare Concurrence of Two Congenital Disorders: Miller-Dieker Syndrome and T-Cell Lymphopenia
|
Feng W.-K.; Lee Y.-C.; Chee S.-Y.; Guo J.-W.; Huang C.-J.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:19Z |
Critical Trio Exome Benefits In-Time Decision-Making for Pediatric Patients with Severe Illnesses?
|
Lee N.-C.; Lai F.; Hsiung H.-C.; Tsai W.-H.; Chiu P.-C.; Chou Y.-Y.; Lee C.-H.; Chen C.-N.; Chang T.-M.; Hsieh W.-S.; Lin S.-P.; Tsai I.-J.; Fan P.-C.; Tsao P.-N.; Chou H.-C.; Chen N.-Q.; Wu E.-T.; Hwu W.-L.; YIN-HSIU CHIEN; Hsu C.; Chen T.-F. |
| 臺大學術典藏 |
2020-12-24T06:16:18Z |
Clinical features of Pompe disease with motor neuronopathy
|
Tsai L.-K.; Hwu W.-L.; Lee N.-C.; Huang P.-H.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:18Z |
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry
|
Leslie N.; Kimonis V.E.; Clemens P.R.; Abbott M.-A.; Llerena J.; Jr.; YIN-HSIU CHIEN; van der Ploeg A.T.; Reuser A.J.J.; Maruti S.S.; Sanson B.-J.; Araujo R.; Periquet M.; Toscano A.; Kishnani P.S.; on behalf of the Pompe Registry Sites |
| 臺大學術典藏 |
2020-12-24T06:16:18Z |
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese
|
Fung J.L.-F.; Yeung K.-S.; Mak C.C.-Y.; Smeitink J.; Rodenburg R.J.T.; Chong S.-C.; Tsoi C.; Chan V.C.-M.; Kuo P.-L.; Hwu W.-L.; YIN-HSIU CHIEN; Quinzii C.M.; Lin S.-P.; Chou Y.-Y.; Kwong A.K.-Y.; Willis B.; Tse D.M.L.; Yu M.H.-C.; Tsang M.H.-Y.; Lai S.; Ho M.S.-P.; Lam W.; Hui J.; Lee N.-C.; Fung C.-W.; Chung B.H.-Y. |
| 臺大學術典藏 |
2020-12-24T06:16:17Z |
Diversity in heritable disorders of connective tissue at a single center
|
Hsu R.-H.; YIN-HSIU CHIEN; Hwu W.-L.; Lee N.-C. |
| 臺大學術典藏 |
2020-12-24T06:16:17Z |
REM sleep and sleep apnea are associated with language function in Down syndrome children: An analysis of a community sample
|
Lee P.-L.; Hwu W.-L.; Chen C.-L.; Lee N.-C.; Hsu W.-C.; Chang L.-M.; Chen Y.-C.; Huang P.-T.; Chien C.-C.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:16:16Z |
Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in down Syndrome
|
Fang W.-Q.; Hwu W.-L.; YIN-HSIU CHIEN; Yang S.-Y.; Chieh J.-J.; Chang L.-M.; Huang A.-C.; Lee N.-C.; Chiu M.-J. |
| 臺大學術典藏 |
2020-12-24T06:16:16Z |
Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan
|
Tan L.T.H.-C.; Lee C.-L.; Lin H.-Y.; Hwu W.-L.; Lee N.-C.; YIN-HSIU CHIEN; Chuang C.-K.; Wu M.-H.; Wang J.-K.; Chu S.-Y.; Lin J.-L.; Lo F.-S.; Su P.-H.; Hsu C.-C.; Ko Y.-Y.; Chen M.-R.; Chiu H.-C.; Lin S.-P. |
| 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
|
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
|
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
|
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
|
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
|
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
|
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)
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
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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. |
