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1

Comparison of Single Intra-Articular Injection of Novel Hyaluronan (HYA-JOINT Plus) with Synvisc-One for Knee Osteoarthritis

Sun, Shu-Fen, Hsu, Chien-Wei, Lin, Huey-Shyan, Liou, I-Hsiu, Chen, Yin-Han, Hung, Chia-Ling

Journal:

The Journal of Bone & Joint Surgery

Year:

2017

Language:

english

File:

PDF, 798 KB

english, 2017

2

Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Alessandra Tessa, Giuseppe Fiermonte, Carlo Dionisi-Vici, Eleonora Paradies, Matthias R. Baumgartner, Yin-Hsiu Chien, Carmela Loguercio, Helene Ogier de Baulny, Marie-Cecile Nassogne, Manuel Schiff, F

Journal:

Year:

2009

Language:

english

File:

PDF, 306 KB

english, 2009

3

[IEEE 2012 International Conference on Advances in Social Networks Analysis and Mining (ASONAM 2012) - Istanbul (2012.08.26-2012.08.29)] 2012 IEEE/ACM International Conference on Advances in Social Networks Analysis and Mining - Newborn Screening for Phenylketonuria: Machine Learning vs Clinicians

Wei-Hsin Chen,, Han-Ping Chen,, Yi-Ju Tseng,, Kai-Ping Hsu,, Sheau-Ling Hsieh,, Yin-Hsiu Chien,, Wuh-Liang Hwu,, Feipei Lai,

Year:

2012

Language:

english

File:

PDF, 545 KB

english, 2012

4

Biparental Inheritance of Mitochondrial DNA in Humans

Luo, Shiyu, Valencia, C. Alexander, Zhang, Jinglan, Lee, Ni-Chung, Slone, Jesse, Gui, Baoheng, Wang, Xinjian, Li, Zhuo, Dell, Sarah, Brown, Jenice, Chen, Stella Maris, Chien, Yin-Hsiu, Hwu, Wuh-Liang,

Journal:

Proceedings of the National Academy of Sciences

Year:

2018

Language:

english

File:

PDF, 1.24 MB

english, 2018

5

Genotypic and phenotypic correlations of biotinidase deficiency in the Chinese population

Hsu, Rai-Hseng, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Chang, I-Fan, Ho, Hui-Chen, Chou, Shi-Ping, Huang, Tzu-Ming, Lee, Ni-Chung

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 565 KB

2019

6

Later-Onset Pompe Disease: Early Detection and Early Treatment Initiation Enabled by Newborn Screening

Yin-Hsiu Chien, Ni-Chung Lee, Hsiang-Ju Huang, Beth L. Thurberg, Fuu-Jen Tsai, Wuh-Liang Hwu

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 450 KB

english, 2011

7

Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985–2010

Wen-I Lee, Jing-Long Huang, Tang-Her Jaing, Shyh-Dar Shyur, Kunder D. Yang, Yin-Hsiu Chien, Bor-Luen Chiang, Wen-Jue Soong, Shyh-Shin Chiou, Chi-Chang Shieh, Syh-Jae Lin, Kuo-Wei Yeh, Li-Chen Chen, Li

Journal:

Year:

2011

Language:

english

File:

PDF, 319 KB

english, 2011

8

Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening

Ni-Chung Lee, Nelson Leung-Sang Tang, Yin-Hsiu Chien, Chun-An Chen, Sho-Juan Lin, Pao-Chin Chiu, Ai-Chu Huang, Wuh-Liang Hwu

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 262 KB

english, 2010

9

Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program

Paul Labrousse, Yin-Hsiu Chien, Robert J. Pomponio, Joan Keutzer, Ni-Chung Lee, Viatcheslav R. Akmaev, Thomas Scholl, Wuh-Liang Hwu

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 314 KB

english, 2010

10

Dysphagia as a risk factor for mortality in Niemann-Pick disease type C: systematic literature review and evidence from studies with miglustat

Mark Walterfang, Yin-Hsiu Chien, Jackie Imrie, Derren Rushton, Danielle Schubiger, Marc C Patterson

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 424 KB

english, 2012

11

Prominent vacuolation of the eyelid levator muscle in an early-treated child with infantile-onset Pompe disease

Chien, Yin-Hsiu, Lee, Ni-Chung, Tsai, Yueh-Ju, Thurberg, Beth L., Tsai, Fuu-Jen, Hwu, Wuh-Liang

Journal:

Year:

2014

Language:

english

File:

PDF, 1.72 MB

english, 2014

12

Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer

Kuo, Wen-Hong, Lin, Po-Han, Huang, Ai-Chu, Chien, Yin-Hsiu, Liu, Tsang-Pai, Lu, Yen-Shen, Bai, Li-Yuan, Sargeant, Aaron M, Lin, Ching-Hung, Cheng, Ann-Lii, Hsieh, Fon-Jou, Hwu, Wuh-Liang, Chang, King-

Journal:

Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 629 KB

english, 2012

13

Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth

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

Journal:

The Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 1.01 MB

english, 2015

14

Relationship Between Media Viewing and Obesity in School-Aged Children in Taipei, Taiwan

Huang, Hsiu-Mei, Chien, Li-Yin, Yeh, Ting-Chi, Lee, Pi-Hsia, Chang, Pi-Chen

Journal:

Journal of Nursing Research

Year:

2013

Language:

english

File:

PDF, 351 KB

english, 2013

15

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Chien, Yin-Hsiu, Abdenur, Jose E., Baronio, Federico, Bannick, Allison Anne, Corrales, Fernando, Couce, Maria, Donner, Markus G., Ficicioglu, Can, Freehauf, Cynthia, Frithiof, Deborah, Gotway, Garrett

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.23 MB

english, 2015

16

Causes of death and clinical characteristics of 34 patients with Mucopolysaccharidosis II in Taiwan from 1995–2012

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, T

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 651 KB

english, 2016

17

Genetic epidemiological study doesn't support GLA IVS4 + 919G > A variant is a significant mutation in Fabry disease

Chiang, Hung-Lun, Wang, Nana Hsiang-Hua, Song, I-Wen, Chang, Chun-Ping, Wen, Ming-Shien, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Tsai, Fuu-Jen, Chen, Yuan-Tsong, Wu, Jer-Yuarn

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 848 KB

english, 2017

18

Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

Peng, Steven Shinn-Forng, Hwu, Wuh-Liang, Lee, Ni-Chung, Tsai, Fuu-Jen, Tsai, Wen-Hui, Chien, Yin-Hsiu

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 2.13 MB

english, 2016

19

Efficacy and safety of AAV2 gene therapy in children with aromatic L-amino acid decarboxylase deficiency: an open-label, phase 1/2 trial

Chien, Yin-Hsiu, Lee, Ni-Chung, Tseng, Sheng-Hong, Tai, Chun-Hwei, Muramatsu, Shin-ichi, Byrne, Barry J, Hwu, Wuh-Liang

Journal:

The Lancet Child & Adolescent Health

Year:

2017

Language:

english

File:

PDF, 541 KB

english, 2017

20

Implementation of a national bundle care program to reduce central line-associated bloodstream infections in intensive care units in Taiwan

Lai, Chih-Cheng, Cia, Cong-Tat, Chiang, Hsiu-Tzy, Kung, Yung-Chung, Shi, Zhi-Yuan, Chuang, Yin-Ching, Lee, Chun-Ming, Ko, Wen-Chien, Hsueh, Po-Ren

Journal:

Journal of Microbiology, Immunology and Infection

Year:

2017

Language:

english

File:

PDF, 294 KB

english, 2017

21

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS)

Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Lin, Shio Jean, Chiu, Pao Chin, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lin, Ju-Li, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 695 KB

english, 2018

22

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

Chien, Yin-Hsiu, Lee, Ni-Chung, Chen, Pin-Wen, Yeh, Hui-Ying, Gelb, Michael H., Chiu, Pao-Chin, Chu, Shao-Yin, Lee, Chen-Hao, Lee, An-Ru, Hwu, Wuh-Liang

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 601 KB

2020

23

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, Chien, Yin-Hsiu

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 428 KB

2020

24

Survival and diagnostic age of 175 Taiwanese patients with mucopolysaccharidoses (1985â2019)

Lin, Hsiang-Yu, Lee, Chung-Lin, Chang, Chia-Ying, Chiu, Pao Chin, Chien, Yin-Hsiu, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Lin, Shio Jean, Lin, Ju-Li, Chao, Mei-Chyn, Chang, Tung-Ming, Tsai, Wen

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.98 MB

2020

25

Distal arthrogryposis in two sisters born to different fathers

Wuh-Liang Hwu, Yin-Hsiu Chien, Chia-Chi Hsu

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 115 KB

english, 2004

26

Caloric restriction in Alström syndrome prevents hyperinsulinemia

Ni-Chung Lee, Jan D. Marshall, Gayle B. Collin, Jürgen K. Naggert, Yin-Hsiu Chien, Wen-Yu Tsai, Wuh-Liang Hwu

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 73 KB

english, 2009

27

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints

Ni-Chung Lee, Ming Chen, Gwo-Chin Ma, Dong-Jay Lee, Tzu-Jou Wang, Yu-Yuan Ke, Yin-Hsiu Chien, Wuh-Liang Hwu

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 398 KB

english, 2010

28

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)

Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Shu-Chuan Chiang, Robert Dobrovolny, Ai-Chu Huang, Hui-Ying Yeh, May-Chin Chao, Shio-Jean Lin, Teruo Kitagawa, Robert J. Desnick, Li-Wen Hsu

Journal:

Year:

2009

Language:

english

File:

PDF, 299 KB

english, 2009

29

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation

Yin-Hsiu Chien, Shu-Chuan Chiang, Aichu Huang, Shi-Ping Chou, Szu-San Tseng, Yuan-Te Huang, Wuh-Liang Hwu

Journal:

Year:

2004

Language:

english

File:

PDF, 37 KB

english, 2004

30

Polarized phosphorescent organic light-emitting devices adopting mesogenic host–guest systems

Su-Hao Liu, Ming-Shiang Lin, Li-Yin Chen, Yun-Hua Hong, Chih-Hung Tsai, Chung-Chih Wu, Anurach Poloek, Yun Chi, Chien-An Chen, Shaw H. Chen, Hsiu-Fu Hsu

Journal:

Organic Electronics

Year:

2011

Language:

english

File:

PDF, 981 KB

english, 2011

31

Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation

Chun-An Chen, Nelson LS Tang, Yin-Hsiu Chien, Wei-Min Zhang, Jou-Kou Wang, Wuh-Liang Hwu

Journal:

BMC Medical Genetics

Year:

2005

Language:

english

File:

PDF, 923 KB

english, 2005

32

Computational analysis of a novel mutation inETFDHgene highlights its long-range effects on the FAD-binding motif

Tze-Kiong Er, Chih-Chieh Chen, Yen-Yi Liu, Hui-Chiu Chang, Yin-Hsiu Chien, Jan-Gowth Chang, Jenn-Kang Hwang, Yuh-Jyh Jong

Journal:

BMC Structural Biology

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

33

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review

Ting-Yu Yen, Wuh-Liang Hwu, Yin-Hsiu Chien, Mei-Hwan Wu, Ming-Tai Lin, Lon-Yen Tsao, Wu-Shiun Hsieh, Ni-Chung Lee

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

34

Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis

Yi-Ning Su, Chien-Nan Lee, Shu-Chin Chien, Chia-Cheng Hung, Yin-Hsiu Chien, Chi-An Chen

Journal:

Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 1.47 MB

english, 2004

35

Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency

Ni-Chung Lee, Yin-Hsiu Chien, Keiko Kobayashi, Takeyori Saheki, Huey-Ling Chen, Pao-Chin Chiu, Yen-Hsuan Ni, Mei-Hwei Chang, Wuh-Liang Hwu

Journal:

Journal of Inherited Metabolic Disease

Year:

2006

Language:

english

File:

PDF, 252 KB

english, 2006

36

Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan

Dau-Ming Niu, Yin-Hsiu Chien, Chuan-Chi Chiang, Hui-Chen Ho, Wuh-Liang Hwu, Shu-Min Kao, Szu-Hui Chiang, Chuan-Hong Kao, Tze-Tze Liu, Hung Chiang, Kwang-Jen Hsiao

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 172 KB

english, 2010

37

Newborn screening for neuropathic lysosomal storage disorders

Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 134 KB

english, 2010

38

Clinical Aspects and Genetic Analysis of Taiwanese Patients with Wiskott–Aldrich Syndrome Protein Mutation: The First Identification of X-Linked Thrombocytopenia in the Chinese with Novel Mutations

Wen-I Lee, Jing-Long Huang, Tang-Her Jaing, Kang-Hsi Wu, Yin-Hsiu Chien, Kuei-Wen Chang

Journal:

Journal of Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 309 KB

english, 2010

39

Newborn Screening Healthcare Information System Based on Service-Oriented Architecture

Sung-Huai Hsieh, Sheau-Ling Hsieh, Yin-Hsiu Chien, Yung-Ching Weng, Kai-Ping Hsu, Chi-Huang Chen, Chien-Ming Tu, Zhenyu Wang, Feipei Lai

Journal:

Journal of Medical Systems

Year:

2010

Language:

english

File:

PDF, 800 KB

english, 2010

40

The Genetics of Atopic Dermatitis

Yin-Hsiu Chien, Wuh-Liang Hwu, Bor-Luen Chiang

Journal:

Clinical Reviews in Allergy & Immunology

Year:

2007

Language:

english

File:

PDF, 196 KB

english, 2007

41

Conditions for the induction of some selective enzymes fromBacillus subtilisand their hydrolysis ability against mackerel and gracilar (asparagus,Gracilaria verrucosa)

Li-Jung YIN, Pei-Chien WU, Hsiu-Ho CHEUNG, Shann-Tzong JIANG

Journal:

Fisheries Science

Year:

2007

Language:

english

File:

PDF, 303 KB

english, 2007

42

Identification and management of cardiac perforation from a double lumen catheter in an infant

Ching-Chia Wang, Yung-Wei Chen, En-Ting Wu, Yin-Hsiu Chien, Wuh-Liang Hwu, Wen-Je Ko, Shu-Chien Huang

Journal:

Pediatric Anesthesia

Year:

2007

Language:

english

File:

PDF, 452 KB

english, 2007

43

Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease

Po-Kai Huang, Chin-Chia Wang, Shuenn-Nan Chiu, En-Ting Wu, Yin-Hsiu Chien, Wuh-Liang Hwu, Jou-Kou Wang, Mei-Hwan Wu

Journal:

Pediatric Anesthesia

Year:

2008

Language:

english

File:

PDF, 129 KB

english, 2008

44

A Promoter Sequence Variant of ZNF750 Is Linked with Familial Psoriasis

Yang, Chi-Fan, Hwu, Wuh-Liang, Yang, Li-Cheng, Chung, Wen-Hung, Chien, Yin-Hsiu, Hung, Chia-Fu, Chen, Hung-Chih, Tsai, Pei-Joung, Fann, Cathy S J, Liao, Fang

Journal:

The Journal of Investigative Dermatology

Year:

2008

Language:

english

File:

PDF, 1.65 MB

english, 2008

45

Enantiotropic Nematics From Cross-Like 1,2,4,5-Tetrakis(4′-alkyl-4-ethynylbiphenyl)benzenes and Their Biaxiality Studies

Dr. Hsiu-Hui Chen, Hsing-An Lin, Yin-Hui Lai, Shu-Yu Lin, Chien-Hung Chiang, Prof. Hsiu-Fu Hsu, Prof. Tzenge-Lien Shih, Dr. Jey-Jau Lee, Prof. Chien-Chen Lai, Ting-Shen Kuo

Journal:

Chemistry - A European Journal

Year:

2012

Language:

english

File:

PDF, 1.93 MB

english, 2012

46

Integrating Human Genome Database into Electronic Health Record with Sequence Alignment and Compression Mechanism

Wei-Hsin Chen, Yu-Wen Lu, Feipei Lai, Yin-Hsiu Chien, Wuh-Liang Hwu

Journal:

Journal of Medical Systems

Year:

2012

Language:

english

File:

PDF, 720 KB

english, 2012

47

Spectrum of hypermethioninemia in neonatal screening

Yin-Hsiu Chien, Shu-Chuan Chiang, Aichu Huang, Wuh-Liang Hwu

Journal:

Early Human Development

Year:

2005

Language:

english

File:

PDF, 86 KB

english, 2005

48

Transcatheter Closure of Portal-Systemic Shunt Combining Congenital Double Extrahepatic Inferior Vena Cava with Vascular Plug

Shuenn-Nan Chiu, Yin-Hsiu Chien, Mei-Hwan Wu, Jou-Kou Wang, Shyh-Jye Chen

Journal:

The Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 270 KB

english, 2008

49

Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease

Lei-Ru Chen, Chun-An Chen, Shuenn-Nan Chiu, Yin-Hsiu Chien, Ni-Chung Lee, Ming-Tai Lin, Wuh-Liang Hwu, Jou-Kou Wang, Mei-Hwan Wu

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 317 KB

english, 2009

50

Rehospitalization of extremely-low-birth-weight infants in first 2 years of life

Yin-Hsiu Chien, Po-Nien Tsao, Hung-Chieh Chou, Jen-Ruey Tang, Kuo-Inn Tsou

Journal:

Early Human Development

Year:

2002

Language:

english

File:

PDF, 77 KB

english, 2002