| 臺大學術典藏 |
2022-03-28T02:45:53Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
Lee N.-C.; Chang K.-L.; in 't Groen S.L.M.; de Faria D.O.S.; Huang H.-J.; Pijnappel W.W.M.P.; Hwu W.-L.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-03-28T02:45:53Z |
Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
|
Tsai M.-J.M.; Lee N.-C.; YIN-HSIU CHIEN; Hwu W.-L.; Tung Y.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:52Z |
Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy
|
Tang Y.-C.; Tsui P.-H.; Wang C.-Y.; Weng H.-L.; YIN-HSIU CHIEN; Yang C.-Y.; Weng W.-C. |
| 臺大學術典藏 |
2022-03-28T02:45:46Z |
Long-term efficacy and safety of eladocagene exuparvovec in patients with AADC deficiency
|
Tai C.-H.; Lee N.-C.; YIN-HSIU CHIEN; Byrne B.J.; Muramatsu S.-I.; Tseng S.-H.; Hwu W.-L. |
| 臺大學術典藏 |
2022-03-14T23:45:35Z |
Hepatic Steatosis Assessment as a New Strategy for the Metabolic and Nutritional Management of Duchenne Muscular Dystrophy
|
Tang, Ya Chun; Tsui, Po Hsiang; Wang, Chiao Yin; Weng, Hui Ling; YIN-HSIU CHIEN; Yang, Chung Yi; WEN-CHIN WENG |
| 臺大學術典藏 |
2022-02-18T08:09:25Z |
大規模人口遺傳疾病篩檢之倫理議題與國家政策
|
Fu-Chang Tsai; Lo-Yun Chung; Yin-Hsiu Chien; WUH-LIANG HWU |
| 臺大學術典藏 |
2022-02-14T23:55:57Z |
Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening
|
NI-CHUNG LEE; Chang, Kai Ling; in 't Groen, Stijn L.M.; de Faria, Douglas O.S.; Huang, Hsiang Ju; Pijnappel, W. W.M.Pim; WUH-LIANG HWU; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2022-02-14T23:55:57Z |
Comparison of GATK and DeepVariant by trio sequencing
|
Lin, Yi Lin; Chang, Pi Chuan; Hsu, Ching; Hung, Miao Zi; YIN-HSIU CHIEN; WUH-LIANG HWU; FEI-PEI LAI; NI-CHUNG LEE |
| 臺大學術典藏 |
2022-02-14T23:55:56Z |
Short stature leads to a diagnosis of Jansen–de Vries syndrome in two unrelated Taiwanese girls: A case report and literature review
|
Tsai, Meng Ju Melody; NI-CHUNG LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; YI-CHING TUNG |
| 臺大學術典藏 |
2022-02-14T23:55:56Z |
Advanced therapeutic strategy for hereditary neuromuscular diseases
|
WUH-LIANG HWU; Muramatsu, Shin Ichi; YIN-HSIU CHIEN; Byrne, Barry J. |
| 臺大學術典藏 |
2022-01-15T00:08:14Z |
Novel compound heterozygous variants in tbcd gene associated with infantile neurodegenerative encephalopathy
|
Chen, Chih Ling; CHIEN-NAN LEE; YIN-HSIU CHIEN; WUH-LIANG HWU; Chang, Tung Ming; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-12-14T23:12:29Z |
CTLA-4 gene mutation and multiple sclerosis: A case report and literature review
|
Lin, Ting Wei; Hu, Ya Chiao; YAO-HSU YANG; YIN-HSIU CHIEN; NI-CHUNG LEE; HSIN-HUI YU; BOR-LUEN CHIANG; LI-CHIEH WANG |
| 臺大學術典藏 |
2021-12-14T23:12:28Z |
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial
|
Diaz-Manera, Jordi; Kishnani, Priya S.; Kushlaf, Hani; Ladha, Shafeeq; Mozaffar, Tahseen; Straub, Volker; Toscano, Antonio; van der Ploeg, Ans T.; Berger, Kenneth I.; Clemens, Paula R.; YIN-HSIU CHIEN; Day, John W.; Illarioshkin, Sergey; Roberts, Mark; Attarian, Shahram; Borges, Joao Lindolfo; Bouhour, Francoise; Choi, Young Chul; Erdem-Ozdamar, Sevim; Goker-Alpan, Ozlem; Kostera-Pruszczyk, Anna; Haack, Kristina An; Hug, Christopher; Huynh-Ba, Olivier; Johnson, Judith; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt; Behin, Anthony; Boentert, Matthias; Carvalho, Gerson; Chahin, Nizar; Charrow, Joel; Deegan, Patrick; Durmus Tekce, Hacer; Duval, Fanny; Genge, Angela; Gutmann, Ludwig; Henderson, Robert D.; Hennermann, Julia B.; Hiwot, Tarekegn; Hughes, Derralynn; Karaa, Amel; Karam, Chafic; Kautzky-Willer, Alexandra; Komaki, Hirofumi; Laforet, Pascal; Longo, Nicola; Malinova, Vera; Maré, Ricardo; Maxit, Clarisa; Mengel, Eugen; Moggio, Maurizio Gualtiero; Molnár, Mária Judit; Mongini, Tiziana Enrica; Nadaj-Pakleza, Aleksandra; Nascimento Osorio, Andres; Noury, Jean Baptiste; Oliveira, Acary Souza Bulle; Parman, Yesim; Pena, Loren; Remiche, Gauthier; Sciacco, Monica; Shieh, Perry B.; Smith, Cheryl; Stulnig, Thomas; Taithe, Frederic; Tard, Céline; Tarnopolsky, Mark; Vorgerd, Matthias; Whitley, Chester; Young, Peter; Alonso-Pérez, Jorge; Altemus, Patricia; Aubé-Nathier, Anne Catherine; Avelar, Jennifer B.; Bailey, Carrie; Bekircan-Kurt, Can Ebru; Billy, Jenny; Boschi, Silvia; Brown, Kathryn E.; Carrera Garcia, Laura; Chase, Lauren; Cirne, Hamilton; Danjoux, Loïc; Davion, Jean Baptiste; DeArmey, Stephanie; Fedotova, Ekaterina; Gandolfo, Eve; Grosz, Zoltan; Guellec, Dewi; Guettsches, Anne Katrin; Guglieri, Michela; Hatcher, Erin; Helms, Sina; Hufgard-Leitner, Miriam; Klyushnikov, Sergey A.; Langton, Jacqui; Linková, Lenka |
| 臺大學術典藏 |
2021-12-14T23:12:27Z |
Long-term efficacy and safety of eladocageneexuparvovec in patients with AADC deficiency
|
CHUN-HWEI TAI; NI-CHUNG LEE; YIN-HSIU CHIEN; Byrne, Barry J.; Muramatsu, Shin Ichi; SHENG-HONG TSENG; WUH-LIANG HWU |
| 臺大學術典藏 |
2021-11-17T03:27:51Z |
DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms
|
Yang, Ta Wei; Li, Yi Hao; CHENG-FU CHOU; FEI-PEI LAI; YIN-HSIU CHIEN; Yin, Hsiang I.; Lee, Tsui Ting; HSIAO-LIN HWA |
| 臺大學術典藏 |
2021-09-14T23:19:08Z |
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants
|
Zanetti, Alessandra; D'Avanzo, Francesca; AlSayed, Moeenaldeen; Brusius-Facchin, Ana Carolina; YIN-HSIU CHIEN; Giugliani, Roberto; Izzo, Emanuela; Kasper, David C.; Lin, Hsiang Yu; Lin, Shuan Pei; Pollard, Laura; Singh, Akashdeep; Tonin, Rodolfo; Wood, Tim; Morrone, Amelia; Tomanin, Rosella |
| 臺大學術典藏 |
2021-07-15T05:31:28Z |
Rapid Trio Exome Sequencing for Autosomal Recessive Renal Tubular Dysgenesis in Recurrent Oligohydramnios
|
SHIN-YU LIN; GWO-TSANN CHUANG; Hung, Chien Hui; WEI-CHOU LIN; YUNG-MING JENG; TING-AN YEN; Chang, Karine; YIN-HSIU CHIEN; WUH-LIANG HWU; CHIEN-NAN LEE; I-JUNG TSAI; NI-CHUNG LEE |
| 臺大學術典藏 |
2021-07-14T03:36:13Z |
The Ethics and Guidelines of Next-Generation Sequencing Genetic Testing and Counseling
|
DANIEL FU-CHANG TSAI; Yu-Chen Juang; Yin-Hsiu Chien; Ni-Chung Lee; Hung Chih-Yu Wang; Shuan-Pei Lin; Wuh-Liang Hwu |
| 臺大學術典藏 |
2021-06-10T07:29:35Z |
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan
|
Kuo, Yih-Chih; Hsueh, Hsueh-Wen; Hsueh, Sung-Ju; Lee, Ni-Chung; Hsieh, Ming-Ju; Chao, Chi-Chao; YIN-HSIU CHIEN; Huang, Pei-Hsin; Yang, Chih-Chao |
| 臺大學術典藏 |
2021-06-10T07:27:58Z |
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening
|
Weng, Wen-Chin; Hsu, Yu-Kan; Chang, Fu-Man; Lin, Chun-Yen; Hwu, Wuh-Liang; Lee, Wang-Tso; Lee, Ni-Chung; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2021-06-10T07:26:30Z |
Clinical and molecular features of idiopathic hypogonadotropic hypogonadism in Taiwan: A single center experience
|
Cho, Chih-Yi; Tsai, Wen-Yu; Lee, Cheng-Ting; Liu, Shih-Yao; Huang, Shu-Yuan; YIN-HSIU CHIEN; Hwu, Wuh-Liang; Lee, Ni-Chung; Tung, Yi-Ching |
| 臺大學術典藏 |
2021-06-07T07:59:33Z |
Phenotype and Genotype Analyses of Ornithine Transcarbamylase Deficiency in Taiwanese
|
Yuan-Td Huang; Yin-Hsiu Chien; Hui-Ying Yeh; Shio-Jean Lin; FRANK LEIGH LU; Shi-Ping Chou; Jing-Meei Lin; Wuh-Liang Hwu |
| 臺大學術典藏 |
2021-06-07T07:59:32Z |
Living-Related Liver Transplantation for Metylmalonic Acidemia: Report of One Case
|
Jui-Yu Hsui; Yin-Hsiu Chien; Shao-Yin Chu; FRANK LEIGH LU; Huey-Ling Chen; Ming-Je Ho; Po-Huang Lee; Wuh-Liang Hwu |
| 臺大學術典藏 |
2021-05-21T11:40:45Z |
DNA mixture interpretation using linear regression and neural networks on massively parallel sequencing data of single nucleotide polymorphisms
|
Yang, Ta Wei; Li, Yi Hao; CHENG-FU CHOU; FEI-PEI LAI; YIN-HSIU CHIEN; Yin, Hsiang I.; Lee, Tsui Ting; HSIAO-LIN HWA |
| 臺大學術典藏 |
2020-12-24T06:17:25Z |
Nephrotic syndrome in a bone marrow transplant recipient without chronic graft-versus-host disease
|
YIN-HSIU CHIEN; Lin K.-H.; Lee T.-Y.; Lu M.-Y.; Tsau Y.-K. |
| 臺大學術典藏 |
2020-12-24T06:17:25Z |
Congenital intracranial teratoma
|
YIN-HSIU CHIEN; Tsao P.-N.; Lee W.-T.; Peng S.-F.; Tsou Yau K.-I. |
| 臺大學術典藏 |
2020-12-24T06:17:25Z |
Typhoid fever presenting as infection-associated hemophagocytic syndrome: Report of one case
|
YIN-HSIU CHIEN; Lee P.-I.; Huang L.-M.; Lee C.-Y.; Lin D.-T.; Lin K.-H. |
| 臺大學術典藏 |
2020-12-24T06:17:24Z |
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant
|
YIN-HSIU CHIEN; Chu S.-Y.; Hsu C.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:24Z |
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations
|
YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Chu S.-Y.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:23Z |
Cranial MR spectroscopy of tetrahydrobiopterin deficiency
|
Hwu W.-L.; Wang T.-R.; Peng S.-F.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:17:23Z |
Cockayne syndrome in a family
|
YIN-HSIU CHIEN; Chou H.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:22Z |
Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan
|
Chu S.-Y.; Chiang S.-C.; YIN-HSIU CHIEN; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:22Z |
Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease
|
Hwu W.-L.; Lai M.-Y.; YIN-HSIU CHIEN; Hsu C.-C. |
| 臺大學術典藏 |
2020-12-24T06:17:21Z |
Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings
|
Chiang B.-L.; Chou C.-C.; Hwu W.-L.; Yang Y.-H.; YIN-HSIU CHIEN |
| 臺大學術典藏 |
2020-12-24T06:17:20Z |
Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: The importance of early testing
|
Hwu W.-L.; YIN-HSIU CHIEN; Liang J.-S.; Lee W.-T.; Wang P.-J.; Tsai W.-Y. |
| 臺大學術典藏 |
2020-12-24T06:17:20Z |
Gene symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency
|
Chiang S.-C.; Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:20Z |
Gene Symbol: OTC: Disease: Ornithine carbamoyltransferase deficiency
|
Lin J.-M.; Chou S.-P.; Lul F.; Yeh H.-Y.; YIN-HSIU CHIEN; Huang Y.-T.; Hwu W.-L.; Chiang S.-C. |
| 臺大學術典藏 |
2020-12-24T06:17:19Z |
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
|
YIN-HSIU CHIEN; Chiang S.C.; Huang A.; Chou S.P.; Tseng S.S.; Huang Y.T.; Hwu W.L. |
| 臺大學術典藏 |
2020-12-24T06:17:19Z |
Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan
|
YIN-HSIU CHIEN; Hsu C.-C.; Huang A.; Chou S.-P.; Lu F.-L.; Lee W.-T.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:18Z |
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
|
YIN-HSIU CHIEN; Hwu W.L. |
| 臺大學術典藏 |
2020-12-24T06:17:18Z |
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
|
YIN-HSIU CHIEN; Hwu W.L.; Ariga T. |
| 臺大學術典藏 |
2020-12-24T06:17:17Z |
Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: Report of one case
|
Hwu W.-L.; Kuo P.-L.; Hung Y.-T.; YIN-HSIU CHIEN; Chu S.-Y. |
| 臺大學術典藏 |
2020-12-24T06:17:17Z |
A step-wise diagnosis of fragile X syndrome in Taiwan
|
Hwu W.-L.; YIN-HSIU CHIEN; Liu C.-H.; Tzeng C.-C.; Chiang S.-C.; Huang Y.-T. |
| 臺大學術典藏 |
2020-12-24T06:17:16Z |
Carbohydrate deficient glycoprotein syndrome type IA
|
Chu K.-L.; YIN-HSIU CHIEN; Tsai C.-E.; Freeze H.H.; Eklund E.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:15Z |
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis
|
Chen C.-A.; YIN-HSIU CHIEN; Hung C.-C.; Chien S.-C.; Lee C.-N.; Su Y.-N. |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3
|
Lin L.-K.; YIN-HSIU CHIEN; Wu J.-Y.; Wang A.-H.; Chiang S.-C.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
Phenylalanine hydroxylase deficiency: Intelligence of patients after early dietary treatment
|
YIN-HSIU CHIEN; Chiang S.-C.; Huang A.; Lin J.-M.; Chiu Y.-N.; Chou S.-P.; Wang T.-R.; Hwu W.-L. |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: Correlation with intelligence assessment
|
Peng S.S.-F.; Tseng W.-Y.I.; YIN-HSIU CHIEN; Hwu W.-L.; Liu H.-M. |
| 臺大學術典藏 |
2020-12-24T06:17:14Z |
Plasma chitotriosidase activity and malaria (multiple letters)
|
Musumeci S.; Hwu W.-L.; YIN-HSIU CHIEN; Chen J.-H. |
| 臺大學術典藏 |
2020-12-24T06:17:13Z |
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism
|
Huang H.-P.; YIN-HSIU CHIEN; Huang L.-M.; Ni Y.-H.; Chang M.-H.; Ho M.-C.; Lee P.-H.; Hwu W.-L. |
