Wuh-Liang H: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

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

7

C-11. An Update on Gene Therapy for the Treatment of Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Hwu, Wuh-Liang, Muramatsu, Shin-Ichi, Lee, Ni-Chung, Chien, Yin-Hsiu, Tseng, Sheng-Hong, Tzen, Kai-Yuan, Snyder, Richard O., Byrne, Barry J., Tai, Chun-Hwei, Wu, Ruey-Meei

Journal:

Molecular Therapy

Year:

2015

Language:

english

File:

PDF, 264 KB

english, 2015

8

A review of aromatic l -amino acid decarboxylase (AADC) deficiency in Taiwan

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

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2019

Language:

english

File:

PDF, 719 KB

english, 2019

9

Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA

Lin, Hsiang-Yu, Chuang, Chih-Kuang, Chen, Ming-Ren, Chiu, Pao, Ke, Yu-Yuan, Niu, Dau-Ming, Tsai, Fuu-Jen, Hwu, Wuh-Liang, Lin, Ju-Li, Lin, Shuan-Pei

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 389 KB

english, 2014

10

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

11

Analysis of nondegraded and degraded DNA mixtures of close relatives using massively parallel sequencing

Hwa, Hsiao-Lin, Wu, Ming-Yih, Lee, James Chun-I, Yin, Hsiang-I, Hsu, Pi-Mei, Li, Shwu-Fang, Hwu, Wuh-Liang, Su, Chih-Wen

Journal:

Year:

2019

Language:

english

File:

PDF, 700 KB

english, 2019

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

Slipped Capital Femoral Epiphysis as a Complication of Growth Hormone Therapy

Shuo-Yu Wang, Yi-Ching Tung, Wen-Yu Tsai, Yin-Hsiu Chien, Jing-Sheng Lee, Wuh-Liang Hwu

Journal:

Journal of the Formosan Medical Association

Year:

2007

Language:

english

File:

PDF, 275 KB

english, 2007

22

Screening Assay of Very Long Chain Fatty Acids in Human Plasma with Multiwalled Carbon Nanotube-Based Surface-Assisted Laser Desorption/Ionization Mass Spectrometry

Hsu, Wei-Yi, Lin, Wei-De, Hwu, Wuh-Liang, Lai, Chien-Chen, Tsai, Fuu-Jen

Journal:

Analytical Chemistry

Year:

2010

Language:

english

File:

PDF, 1.55 MB

english, 2010

23

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population

Chien, Yin-Hsiu, Chiang, Shu-Chuan, Chang, Kai-Ling, Yu, Hsin-Hui, Lee, Wen-I, Tsai, Li-Ping, Hsu, Li-Wen, Hu, Min-Huei, Hwu, Wuh-Liang

Journal:

Journal of the Formosan Medical Association

Year:

2015

Language:

english

File:

PDF, 278 KB

english, 2015

24

Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification

Huang, Chien-Hao, Chang, Yih-Yuan, Chen, Chung-Hsiung, Kuo, Yen-Shi, Hwu, Wuh-Liang, Gerdes, Tommy, Ko, Tsang-Ming

Journal:

Genetics in Medicine

Year:

2007

Language:

english

File:

PDF, 1022 KB

english, 2007

25

Parkin Mutations and Early-Onset Parkinsonism in a Taiwanese Cohort

Wu, Ruey-Meei, Bounds, Rebecca, Lincoln, Sarah, Hulihan, Mary, Lin, Chin-Hsien, Hwu, Wuh-Liang, Chen, Judy, Gwinn-Hardy, Katrina, Farrer, Matt

Journal:

Archives of Neurology

Year:

2005

Language:

english

File:

PDF, 118 KB

english, 2005

26

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease

Burton, Barbara K., Kronn, David F., Hwu, Wuh-Liang, Kishnani, Priya S.

Journal:

Year:

2017

Language:

english

File:

PDF, 926 KB

english, 2017

27

Mutant EXT1 in Taiwanese Patients with Multiple Hereditary Exostoses

Lin, Wei-De, Hwu, Wuh-Liang, Wang, Chung-Hsing, Tsai, Fuu-Jen

Journal:

Year:

2014

Language:

english

File:

PDF, 3.12 MB

english, 2014

28

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

29

Regulation of the dopaminergic system in a murine model of aromatic l-amino acid decarboxylase deficiency

Lee, Ni-Chung, Shieh, Yih-Dar, Chien, Yin-Hsiu, Tzen, Kai-Yuan, Yu, I-Shing, Chen, Pin-Wen, Hu, Min-Hsiu, Hu, Meng-kai, Muramatsu, Shin-ichi, Ichinose, Hiroshi, Hwu, Wuh-Liang

Journal:

Neurobiology of Disease

Year:

2013

Language:

english

File:

PDF, 2.83 MB

english, 2013

30

Outcome of early-treated type III Gaucher disease patients

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

Journal:

Blood Cells, Molecules, and Diseases

Year:

2014

Language:

english

File:

PDF, 943 KB

english, 2014

31

Myopathy in Gaucher disease

Tsai, Li-Kai, Chien, Yin-Hsiu, Yang, Chih-Chao, Hwu, Wuh-Liang

Journal:

Journal of Inherited Metabolic Disease

Year:

2008

Language:

english

File:

PDF, 85 KB

english, 2008

32

Brain Development in Infantile-Onset Pompe Disease Treated by Enzyme Replacement Therapy

Chien, Yin-Hsiu, Lee, Ni-Chung, Peng, Shinn-Forng, Hwu, Wuh-Liang

Journal:

Pediatric Research

Year:

2006

Language:

english

File:

PDF, 277 KB

english, 2006

33

Integrated care for Down syndrome

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

Journal:

Congenital Anomalies

Year:

2016

Language:

english

File:

PDF, 799 KB

english, 2016

34

Genome-Wide Gene Expression Analysis Implicates the Immune Response and Lymphangiogenesis in the Pathogenesis of Fetal Chylothorax

Yeang, Chen-Hsiang, Ma, Gwo-Chin, Shih, Jin-Chung, Yang, Yu-Shih, Chen, Chih-Ping, Chang, Shun-Ping, Wu, Sheng-Hai, Liu, Chin-San, Kuo, Shou-Jen, Chou, Hung-Chieh, Hwu, Wuh-Liang, Cameron, Alan D., Gi

Journal:

Year:

2012

Language:

english

File:

PDF, 390 KB

english, 2012

35

Multiplex UPLC-MS/MS assay of 8 lysosomal disorders in newborn screening

Chen, Pin-Wen, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Shiu, Yu-Rou, Gelb, Michael

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 50 KB

english, 2018

36

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

Simon, Mariella T., Eftekharian, Shaya S., Stover, Alex, Osborne, Aaron F., Braffman, Bruce H., Chang, Richard, Wang, Raymond Y., Steenari, Maija R., Tang, Sha, Hwu, Paul Wuh-Liang, Taft, Ryan J., Ben

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 3.75 MB

english, 2018

37

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

38

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

39

Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease

Yin-Hsiu Chien, Petra Olivova, Xiaokui Kate Zhang, Shu-Chuan Chiang, Ni-Chung Lee, Joan Keutzer, Wuh-Liang Hwu

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 243 KB

english, 2011

40

SHOX deficiency in short Taiwanese children: A single-center experience

Tung, Yi-Ching, Lee, Ni-Chung, Hwu, Wuh-Liang, Liu, Shih-Yao, Lee, Cheng-Ting, Chien, Yin-Hsiu, Tsai, Wen-Yu

Journal:

Journal of the Formosan Medical Association

Year:

2017

Language:

english

File:

PDF, 838 KB

english, 2017

41

Incidence of the mucopolysaccharidoses in Taiwan, 1984–2004

Hsiang-Yu Lin, Shuan-Pei Lin, Chih-Kuang Chuang, Dau-Ming Niu, Ming-Ren Chen, Fuu-Jen Tsai, Mei-Chyn Chao, Pao-Ching Chiu, Shio-Jean Lin, Li-Ping Tsai, Wuh-Liang Hwu, Ju-Li Lin

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 95 KB

english, 2009

42

Transfusion-acquired cytomegalovirus infection in children in a hyperendemic area

Ping-Ing Lee, Mei-Hwei Chang, Wuh-Liang Hwu, Chuan-Liang Kao, Chin-Yun Lee

Journal:

Journal of Medical Virology

Year:

1992

Language:

english

File:

PDF, 476 KB

english, 1992

43

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

44

Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort

Ching-Chia Wang, Wuh-Liang Hwu, En-Ting Wu, Frank Lu, Jou-Kou Wang, Mei-Hwan Wu

Journal:

Acta Paediatrica

Year:

2007

Language:

english

File:

PDF, 283 KB

english, 2007

45

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

Arnold J. Reuser, Frans W. Verheijen, Deeksha Bali, Otto P. van Diggelen, Dominique P. Germain, Wuh-Liang Hwu, Zoltan Lukacs, Adolf Mühl, Petra Olivova, Monique Piraud, Birgit Wuyts, Kate Zhang, Joan

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 187 KB

english, 2011

46

Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice

Tsai, Li-Kai, Chen, Chien-Lin, Ting, Chen-Hung, Lin-Chao, Sue, Hwu, Wuh-Liang, Dodge, James C, Passini, Marco A, Cheng, Seng H

Journal:

Molecular Therapy

Year:

2014

Language:

english

File:

PDF, 1.30 MB

english, 2014

47

Benefits of Neuronal Preferential Systemic Gene Therapy for Neurotransmitter Deficiency

Lee, Ni-Chung, Muramatsu, Shin-Ichi, Chien, Yin-Hsiu, Liu, Wen-Shin, Wang, Wei-Hua, Cheng, Chia-Hao, Hu, Meng-Kai, Chen, Pin-Wen, Tzen, Kai-Yuan, Byrne, Barry J, Hwu, Wuh-Liang

Journal:

Molecular Therapy

Year:

2015

Language:

english

File:

PDF, 8.18 MB

english, 2015

48

Albuterol as an adjunctive treatment to enzyme replacement therapy in infantile-onset Pompe disease

Chien, Yin-Hsiu, Hwu, Wuh-Liang, Lee, Ni-Chung, Tsai, Fuu-Jen, Koeberl, Dwight D., Tsai, Wen-Hui, Chiu, Pao-Chin, Chang, Chaw-Liang

Journal:

Molecular Genetics and Metabolism Reports

Year:

2017

Language:

english

File:

PDF, 720 KB

english, 2017

49

Composite Scores of Plasma Tau and β-Amyloids Correlate with Dementia in Down Syndrome

Fang, Wei-Quan, Hwu, Wuh-Liang, Chien, Yin-Hsiu, Yang, Shieh-Yueh, Chieh, Jen-Jie, Chang, Lih-Maan, Huang, Ai-Chu, LEE, NI-CHUNG, Chiu, Ming-Jang

Journal:

ACS Chemical Neuroscience

Year:

2019

File:

PDF, 1.46 MB

2019

50

Cytogenetic Study of Mentally Retarded Children in Taipei

Wang-Wu, Sheng, Lai, Yu-Ming, Hwu, Wuh-Liang, Wang, Tso-Ren, Wuu, Kuang-Dong

Journal:

Journal of Biomedical Science

Year:

1994

File:

PDF, 397 KB

1994

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