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51

Reye's syndrome developing in an infant on treatment of Kawasaki syndrome

Chih-Ming Wei, Huey-Ling Chen, Ping-Ing Lee, Chong-Ming Chen, Chun-Yi Ma, Wuh-Liang Hwu

Journal:

Journal of Paediatrics and Child Health

Year:

2005

Language:

english

File:

PDF, 49 KB

english, 2005

52

Hyperammonemia and positive allopurinol test in hyperinsulinism–hyperammonemia syndrome: Taiwanese case report

Lung-Chang Lin, Wuh-Liang Hwu, Rei-Cheng Yang

Journal:

Pediatrics International

Year:

2009

Language:

english

File:

PDF, 101 KB

english, 2009

53

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

54

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

55

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

56

Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome

Shih-Hao Wang, Chen-Chi Wu, Ying-Chang Lu, Yin-Hung Lin, Yi-Ning Su, Wuh-Liang Hwu, I-Shing Yu, Chuan-Jen Hsu

Journal:

The Laryngoscope

Year:

2012

Language:

english

File:

PDF, 1.07 MB

english, 2012

57

Cytogenetic study of mentally retarded children in Taipei

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

Journal:

Journal of Biomedical Science

Year:

1994

Language:

english

File:

PDF, 585 KB

english, 1994

58

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

59

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

60

Correlation of Survival Motor Neuron Expression in Leukocytes and Spinal Cord in Spinal Muscular Atrophy

Li-Kai Tsai, Chih-Chao Yang, Chen-Hung Ting, Yi-Ning Su, Wuh-Liang Hwu, Hung Li

Journal:

The Journal of Pediatrics

Year:

2009

Language:

english

File:

PDF, 336 KB

english, 2009

61

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

62

Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: First case report and determination of annular diameter

Shu-Chien Huang, En-Ting Wu, Shuenn–Nan Chiu, Wuh-Liang Hwu, Mei-Hwan Wu, Shoei-Shen Wang

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2008

Language:

english

File:

PDF, 191 KB

english, 2008

63

Establishing a standardized therapeutic testing protocol for spinal muscular atrophy

Li-Kai Tsai, Ming-Shung Tsai, Tzer-Bin Lin, Wuh-Liang Hwu, Hung Li

Journal:

Neurobiology of Disease

Year:

2006

Language:

english

File:

PDF, 1.42 MB

english, 2006

64

IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice

Li-Kai Tsai, Yi-Chun Chen, Wei-Cheng Cheng, Chen-Hung Ting, James C. Dodge, Wuh-Liang Hwu, Seng H. Cheng, Marco A. Passini

Journal:

Neurobiology of Disease

Year:

2012

Language:

english

File:

PDF, 1.47 MB

english, 2012

65

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

66

Molecular Genetics of Glycogen-Storage Disease Type 1a in Chinese Patients of Taiwan

Lee-Jun C. Wong, Wuh-Liang Hwu, Pu Dai, Tian-Jian Chen

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 105 KB

english, 2001

67

Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan

Pen-Jung Wang, You-Min Ko, Chainllie Young, Wuh-Liang Hwu, Yu-Zen Shen

Journal:

Brain and Development

Year:

1994

Language:

english

File:

PDF, 769 KB

english, 1994

68

Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up

Tsung-Jen Wang, Muh-Shy Chen, Yung-Feng Shih, Wuh-Liang Hwu, Ming-Yang Lai

Journal:

American Journal of Ophthalmology

Year:

2005

Language:

english

File:

PDF, 234 KB

english, 2005

69

Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein

Yu-Wei Chiou, Wuh-Liang Hwu, Yu-May Lee

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2008

Language:

english

File:

PDF, 1.52 MB

english, 2008

70

Mutation analysis of Gaucher disease patients in Taiwan: High prevalence of the RecNciI and L444P mutations

Lei Wan, Chin-Moo Hsu, Chang-Hai Tsai, Cheng-Chun Lee, Wuh-Liang Hwu, Fuu-Jen Tsai

Journal:

Blood Cells, Molecules, and Diseases

Year:

2006

Language:

english

File:

PDF, 86 KB

english, 2006

71

CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency

Kai-Ling Chang, Wuh-Liang Hwu, Hui-Ying Yeh, Ni-Chung Lee, Yin-Hsiu Chien

Journal:

Blood Cells, Molecules, and Diseases

Year:

2010

Language:

english

File:

PDF, 582 KB

english, 2010

72

Left Ventricular Geometry, Global Function, and Dyssynchrony in Infants and Children With Pompe Cardiomyopathy Undergoing Enzyme Replacement Therapy

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

Journal:

Journal of Cardiac Failure

Year:

2011

Language:

english

File:

PDF, 295 KB

english, 2011

73

Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients

Wei-De Lin, Shuan-Pei Lin, Chung-Hsing Wang, Wuh-Liang Hwu, Chih-Kuang Chuang, Shio-Jean Lin, Yushin Tsai, Chih-Ping Chen, Fuu-Jen Tsai

Journal:

Clinica Chimica Acta

Year:

2008

Language:

english

File:

PDF, 139 KB

english, 2008

74

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry

Angéla Dajnoki, György Fekete, Joan Keutzer, Joseph J. Orsini, Victor R. De Jesus, Yin-Hsiu Chien, Wuh-Liang Hwu, Zoltan Lukacs, Adolf Mühl, X. Kate Zhang, Olaf Bodamer

Journal:

Clinica Chimica Acta

Year:

2010

Language:

english

File:

PDF, 429 KB

english, 2010

75

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

Priya S. Kishnani, Wuh-Liang Hwu, Hanna Mandel, Marc Nicolino, Florence Yong, Deyanira Corzo

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 132 KB

english, 2006

76

Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants

Jiun-Nan Yeh, Yung-Ming Jeng, Huey-Lin Chen, Yen-Hsuan Ni, Wuh-Liang Hwu, Mei-Hwei Chang

Journal:

The Journal of Pediatrics

Year:

2006

Language:

english

File:

PDF, 117 KB

english, 2006

77

Clinical features of AADC-deficient children and therapeutic prospects

Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Wang-Tso Lee, Ruey-Meei Wu

Journal:

Neuroscience Research

Year:

2009

Language:

english

File:

PDF, 72 KB

english, 2009

78

Brain Damage by Mild Metabolic Derangements in Methylmalonic Acidemia

Ni-Chung Lee, Yin-Hsiu Chien, Shinn-Forng Peng, Ai-Chu Huang, Tze-Tze Liu, Ariel Sing-Huei Wu, Li-Chu Chen, Li-Wen Hsu, Shih-Chuan Tseng, Wuh-Liang Hwu

Journal:

Pediatric Neurology

Year:

2008

Language:

english

File:

PDF, 651 KB

english, 2008

79

Schizencephaly in LEOPARD Syndrome

Jao-Shwann Liang, Yin-Hsiu Chien, Wuh-Liang Hwu, Shu-Jen Yeh, Shinn-Forng Peng

Journal:

Pediatric Neurology

Year:

2009

Language:

english

File:

PDF, 197 KB

english, 2009

80

Early Pathologic Changes and Responses to Treatment in Patients With Later-Onset Pompe Disease

Yin-Hsiu Chien, Ni-Chung Lee, Pei-Hsin Huang, Wang-Tso Lee, Beth L. Thurberg, Wuh-Liang Hwu

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 797 KB

english, 2012

81

Preimplantation and prenatal genetic diagnosis of aromatic L-amino acid decarboxylase deficiency with an amplification refractory mutation system-quantitative polymerase chain reaction

Shou-Jen Kuo, Gwo-Chin Ma, Shun-Ping Chang, Hsin-Hung Wu, Chih-Ping Chen, Tung-Ming Chang, Wen-Hsiang Lin, Sheng-Hai Wu, Mei-Hui Lee, Wuh-Liang Hwu, Ming Chen

Journal:

Taiwanese Journal of Obstetrics and Gynecology

Year:

2011

Language:

english

File:

PDF, 627 KB

english, 2011

82

36 LSD enzyme assays in dried blood spots—From research to newborn screening

Joan Keutzer, Wuh-Liang Hwu, Carole Elbin, Wei-Lien Chuang, X. Kate Zhang

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 60 KB

english, 2007

83

117. Development of a disease severity scoring system for type I Gaucher disease

Ari Zimran, Maria Cappellini, Timothy Cox, Edward Giannini, Gregory A. Grabowski, Wuh-Liang Hwu, Henry Mankin, Anna Maria Martins, Carolyn Sawyer, Stephan vom Dahl, Neal Weinreb, Michael Yeh

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 45 KB

english, 2008

84

48. An update on newborn screening for Pompe disease

Joan Keutzer, Wuh-Liang Hwu, Yin-Hsiu Chien, Olaf Bodamer, Adolf Mühl, X. Kate Zhang

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 42 KB

english, 2008

85

100. A multicentre retrospective survey of miglustat in patients with Niemann-Pick type C disease

Marc Patterson, Merci Pineda, Fridiric Sedel, Eugen Mengel, Wuh-Liang Hwu, Marianne Rohrbach, Brubo Bembi, Christoph Korenke, Cicile Luzy, Peter Schieber, Ruben Giorgino, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

86

148. A validated disease severity scoring system for gaucher disease type 1

Neal Weinreb, Maria Cappellini, Timothy Cox, Edward Giannini, Gregory Grabowski, Wuh-Liang Hwu, Henry Mankin, Ana Maria Martins, Stephan vom Dahl, Michael Yeh, Ari Zimran

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

87

Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease

Yin-Hsiu Chien, Ni-Chung Lee, Fu-Jen Tsai, May-Chin Chao, Wuh-Liang Hwu

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 211 KB

english, 2010

88

Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia

Joaquín Fernández-Irigoyen, Enrique Santamaría, Yin-Hsiu Chien, Wuh-Liang Hwu, Stanley H. Korman, Hanna Faghfoury, Andreas Schulze, George E. Hoganson, Sally P. Stabler, Robert H. Allen, Conrad Wagner

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 362 KB

english, 2010

89

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

90

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

Nina Raben, Evelyn Ralston, Yin-Hsiu Chien, Rebecca Baum, Cynthia Schreiner, Wuh-Liang Hwu, Kristien J.M. Zaal, Paul H. Plotz

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 856 KB

english, 2010

91

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

92

Rapid progressive course of later-onset Pompe disease in Chinese patients

Chih-Chao Yang, Yin-Hsiu Chien, Ni-Chung Lee, Shu-Chuan Chiang, Shuan-Pei Lin, Yung-Ting Kuo, Shun-Sheng Chen, Yuh-Jyh Jong, Wuh-Liang Hwu

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 571 KB

english, 2011

93

Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program

Shu-Chuan Chiang, Wuh-Liang Hwu, Ni-Chung Lee, Li-Wen Hsu, Yin-Hsiu Chien

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 1.61 MB

english, 2012

94

Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells

Wuh-Liang Hwu, Hui-Ying Yeh, Shu-Wen Fang, Hao-Sen Chiang, Yu-Wei Chiou, Yu-May Lee

Journal:

Biochemical and Biophysical Research Communications

Year:

2003

Language:

english

File:

PDF, 271 KB

english, 2003

95

Alglucosidase Alfa (Myozyme®) in Infants and Children with Rapidly Progressive Pompe Disease

Deyanira Corzo, Barry Byrne, Wuh-Liang Hwu, Nancy Leslie, Hanna Mandel, Marc Nicolino

Journal:

Clinical Therapeutics

Year:

2008

Language:

english

File:

PDF, 138 KB

english, 2008

96

Screening for pompe disease and fabry disease

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

Journal:

Clinical Therapeutics

Year:

2008

Language:

english

File:

PDF, 57 KB

english, 2008

97

Screening of Newborns for Pompe Disease and/or Other Lysosomal Storage Disorders

Olaf Bodamer, Victor De Jesus, Joan Keutzer, Kate Zhang, Wuh-Liang Hwu, Adolf Mühl

Journal:

Clinical Therapeutics

Year:

2008

Language:

english

File:

PDF, 102 KB

english, 2008

98

S27-3 EFFECTS OF ENZYME REPLACEMENT THERAPY ON GLOBAL AND REGIONAL LEFT VENTRICULAR FUNCTION IN PATIENTS WITH INFANTILE POMPE DISEASE

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

Journal:

International Journal of Cardiology

Year:

2007

Language:

english

File:

PDF, 59 KB

english, 2007

99

The controversy regarding diagnostic criteria for early myoclonic encephalopathy

Pen-Jung Wang, Wang-Tso Lee, Wuh-Liang Hwu, Chainllie Young, Kou-Inn Tsou Yau, Yu-Zen Shen

Journal:

Brain and Development

Year:

1998

Language:

english

File:

PDF, 346 KB

english, 1998

100

Duplication of proteolipid protein gene: A possible major cause of Pelizaeus-Merzbacher disease

Pen-Jung Wang, Wuh-Liang Hwu, Wang-Tso Lee, Tso-Ren Wang, Yu-Zen Shen

Journal:

Pediatric Neurology

Year:

1997

Language:

english

File:

PDF, 367 KB

english, 1997