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Yuan-Tsong Chen

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Baodong Sun; Beth L Thurberg; Adviye A Tolun; William E Kraus; Stephanie Austin; Deeksha Bali; Yuan-Tsong Chen; Keri Fredrickson; Priya S Kishnani
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
Yosuke Ichimura; Michael T M Lee; Kiyoshi Mihara; Takashi Morita; Mari Shiomi; Harumi Takahashi; Yuan-Tsong Chen; Hirotoshi Echizen
Inter-individual differences in baseline coagulation activities and their implications for international normalized ratio control during warfarin initiation therapy.
Chun-Yu Wei; Ming-Ta Michael Lee; Yuan-Tsong Chen
Pharmacogenomics of adverse drug reactions: implementing personalized medicine.

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2013: Baodong Sun; Beth L Thurberg; Adviye A Tolun; William E Kraus; Stephanie Austin; Deeksha Bali; Yuan-Tsong Chen; Keri Fredrickson; Priya S Kishnani
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
Molecular genetics and metabolism 2013;108(2):145-7.
2012: Yosuke Ichimura; Michael T M Lee; Kiyoshi Mihara; Takashi Morita; Mari Shiomi; Harumi Takahashi; Yuan-Tsong Chen; Hirotoshi Echizen
Inter-individual differences in baseline coagulation activities and their implications for international normalized ratio control during warfarin initiation therapy.
Clinical pharmacokinetics 2012;51(12):799-808.
2012: Chun-Yu Wei; Ming-Ta Michael Lee; Yuan-Tsong Chen
Pharmacogenomics of adverse drug reactions: implementing personalized medicine.
Human molecular genetics 2012;21(R1):R58-65.
2012: Shan-Ling Hung; C-Y Wu; H-H Chiang; M-J Hsu; Yuan-Tsong Chen
Effects of herpes simplex virus type 1 infection on immune functions of human neutrophils.
Journal of periodontal research 2012;47(5):635-44.
2012: Tai-Ming Ko; Yuan-Tsong Chen
T-cell receptor and carbamazepine-induced Stevens-Johnson syndrome and toxic epidermal necrolysis: understanding a hypersensitivity reaction.
Expert review of clinical immunology 2012;8(5):467-77.
2012: Yu-Chang Cheng; Fang-Chih Hsiao; Wan-Jia Lin; Chuan-Kun Liu; Cheng-Yang Louis Tang; Huan-Chin Tseng; Hsing-Tsung Wu; Chih-Cheng Chen; Yuan-Tsong Chen; Erh-Chan Yeh; Adam Yao
VarioWatch: providing large-scale and comprehensive annotations on human genomic variants in the next generation sequencing era.
Nucleic acids research 2012;40(Web Server issue):W76-81.
2012: Chun-Yu Wei; Yuan-Tsong Chen; Wen-Hung Chung; Hsiao-Wen Huang; Shuen-Iu Hung
Direct interaction between HLA-B and carbamazepine activates T cells in patients with Stevens-Johnson syndrome.
The Journal of allergy and clinical immunology 2012;129(6):1562-9.e5.
2012: Catherine T Jordan; Cailin E Joyce; Yin Liu; Michelle A Lowes; Alison A McBride; Alan Menter; Katherine C Pierson; Elisha D O Roberson; Caitriona Ryan; Jer-Yuarn Wu; Chi-Fan Yang; Li Cao; Yongqing Chen; Yuan-Tsong Chen; Shenghui Duan; Raphaela Goldbach-Mansky; Cynthia A Helms; Wuh-Liang Hwu; Anne M Bowcock
PSORS2 is due to mutations in CARD14.
American journal of human genetics 2012;90(5):784-95.
2012: Yi-Ching Lee; Chi-Di Liang; Yi-Min Liu; Fuu-Jen Tsai; Jeng-Sheng Chang; Li-Ching Chang; Luan-Yin Chang; Chien-Hsiun Chen; Ming-Ren Chen; Ying-Ju Chen; Yuan-Tsong Chen; Hsin Chi; Nan-Chang Chiu; Fu-Yuan Huang; Li-Min Huang; Yhu-Chering Huang; Betau Hwang; Kao-Pin Hwang; Kuo Ho-Chang; Meng-Luen Lee; Pi-Chang Lee; Jer-Yuarn Wu
Two new susceptibility loci for Kawasaki disease identified through genome-wide association analysis.
Nature genetics 2012;44(5):522-5.
2012: Suhrad G Banugaria; Joel Charrow; Yuan-Tsong Chen; Stuti Das; Joanne Mackey; Trusha T Patel; Amy S Rosenberg; Andrea Amalfitano; Priya S Kishnani
Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.
Molecular genetics and metabolism 2012;105(4):677-80.
2012: Yi-Cheng Chang; Yuan-Tsong Chen; Yen-Feng Chiu; Jess David Curb; Chano A Hsiung; Po-Chu Lee; Wei-Jei Lee; Ming-Wei Lin; Pi-Hua Liu; Thomas Quertermous; Wayne H-H Sheu; Kuang-Chung Shih; Lee-Ming Chuang
Replication of genome-wide association signals of type 2 diabetes in Han Chinese in a prospective cohort.
Clinical endocrinology 2012;76(3):365-72.
2012: Sing-Chung Li; Ju-Li Lin; Po-Nien Tsao; Chen Yang; Deeksha S Bali; Chien-Yi Chen; Yuan-Tsong Chen; Yin-Hsiu Chien; Hung-Chieh Chou; Shih-Ming Chu; Wu-Shiun Hsieh; Wuh-Liang Hwu; Ni-Chung Lee
Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.
Journal of child neurology 2012;27(2):204-8.
2012: Ying-Jay Liou; Chih-Min Liu; Hui-Fen Liu; Yu-Li Liu; Shih-Jen Tsai; Hui-Hung Wang; Sheng-Chang Wang; Ching-Kuan Wu; Cheng-Chung Chen; Chien-Hsiun Chen; Chia-Hsiang Chen; Yuan-Tsong Chen; Hung-Lun Chiang; Yi-Chun Chou; Ming-Shun Chung; Chen-Jee Hong; Hai-Gwo Hwu; Chien-Cheng Kuo; I-Ching Lai; Ming-Ta Michael Lee; Ding-Lieh Liao; Ching-Hua Lin; Jer-Yuarn Wu
Genome-wide association study of treatment refractory schizophrenia in Han Chinese.
PloS one 2012;7(3):e33598.
2012: Chun-Yu Wei; Tai-Ming Ko; Chen-Yang Shen; Yuan-Tsong Chen
A recent update of pharmacogenomics in drug-induced severe skin reactions.
Drug metabolism and pharmacokinetics 2012;27(1):132-41.
2011: Tai-Ming Ko; Chia-Hsien Lin; Han-Yu Shih; Chun-Yu Wei; Jung-Kuei Chen; Yuan-Tsong Chen; Wen-Hung Chung; Shuen-Iu Hung
Shared and restricted T-cell receptor use is crucial for carbamazepine-induced Stevens-Johnson syndrome.
The Journal of allergy and clinical immunology 2011;128(6):1266-1276.e11.
2011: Shu-Chi Mu; Jer-Yuarn Wu; Liang-Kuang Chen; Ching-Heng Chou; Sing-Chung Li; Yi-Jung Lin; Hwa-Chang Liu; Ming-Ta Michael Lee; Yuan-Tsong Chen
A mutation in cartilage oligomeric matrix protein (COMP) causes early-onset osteoarthritis in a large kindred study.
Annals of human genetics 2011;75(5):575-83.
2011: Chia-Min Chung; Hung-Yun Ho; Hsin-Bang Leu; Shing-Jong Lin; Tsung-Hsien Lin; Sheng-Hsiung Sheu; Chih-Tai Ting; Wei-Chuan Tsai; Hsin-Chou Yang; Jyh-Hong Chen; Jaw-Wen Chen; Yuan-Tsong Chen; Wen-Harn Pan
A genome-wide association study reveals a quantitative trait locus of adiponectin on CDH13 that predicts cardiometabolic outcomes.
Diabetes 2011;60(9):2417-23.
2011: Suhrad G Banugaria; Yuan-Tsong Chen; Richard S Finkel; Joyce A Kobori; Roger L Ladda; Yiu-Ki Ng; Sean N Prater; Amy S Rosenberg; Priya S Kishnani
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2011;13(8):729-36.
2011: Nagham George Abd Al-Ahad Sabbagha; Woan-Yuh Tarn; Fuu-Jen Tsai; Jer-Yuarn Wu; Chih-Fu Yang; Tzu-Ho Chen; Cheng-Chih Huang; Hsiao-Jung Kao; Wei-De Lin; Yuan-Tsong Chen
Alternative splicing in Acad8 resulting a mitochondrial defect and progressive hepatic steatosis in mice.
Pediatric research 2011;70(1):31-6.
2011: Dwight D Koeberl; Xiaoyan Luo; Baodong Sun; Alison McVie-Wylie; Jian Dai; Songtao Li; Suhrad G Banugaria; Yuan-Tsong Chen; Deeksha Bali
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.
Molecular genetics and metabolism 2011;103(2):107-12.
2011: Yi-Ching Lee; Chia-Jung Chang; Deeksha Bali; Yuan-Tsong Chen; Yu-Ting Yan
Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.
Human molecular genetics 2011;20(3):455-65.
2011: Chien-Hsing Lin; Jen-Kou Lin; Jin-Hwang Liu; Shih-Feng Tsai; Hwey-May Chang; Shih-Ching Chang; Ya-Hui Chang; Yuan-Tsong Chen; Ling-Hui Li; Wei-Shone Chen
Molecular profile and copy number analysis of sporadic colorectal cancer in Taiwan.
Journal of biomedical science 2011;18():36.
2011: Hsin-Chou Yang; Hsin-Chi Lin; Meijyh Kang; Chun-Houh Chen; Chien-Wei Lin; Ling-Hui Li; Jer-Yuarn Wu; Yuan-Tsong Chen; Wen-Harn Pan
SAQC: SNP array quality control.
BMC bioinformatics 2011;12():100.
2011: Fuu-Jen Tsai; Yi-Ching Lee; Jeng-Sheng Chang; Li-Min Huang; Fu-Yuan Huang; Nan-Chang Chiu; Ming-Ren Chen; Hsin Chi; Yann-Jinn Lee; Li-Ching Chang; Yi-Min Liu; Hsiang-Hua Wang; Chien-Hsiun Chen; Yuan-Tsong Chen; Jer-Yuarn Wu
Identification of novel susceptibility Loci for kawasaki disease in a Han chinese population by a genome-wide association study.
PloS one 2011;6(2):e16853.
2010: Chia-Min Chung; Ray-Yau Wang; Jaw-Wen Chen; Cathy S J Fann; Hsin-Bang Leu; H-Y Ho; Chih-Tai Ting; T-H Lin; S-H Sheu; W-C Tsai; J-H Chen; Y-S Jong; Shing-Jong Lin; Yuan-Tsong Chen; Wen-Harn Pan
A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.
The pharmacogenomics journal 2010;10(6):537-44.
2010: Chian-Feng Chen; En-Chi Hsu; Kuen-Tyng Lin; Pang-hsien Tu; Hung-Wei Chang; Chin-Hui Lin; Yann-Jang Chen; De-Leung Gu; Chi-Hung Lin; Jer-Yuarn Wu; Yuan-Tsong Chen; Ming-Ta Hsu; Yuh-Shan Jou
Overlapping high-resolution copy number alterations in cancer genomes identified putative cancer genes in hepatocellular carcinoma.
Hepatology (Baltimore, Md.) 2010;52(5):1690-701.
2010: Yi-Ching Lee; Hsun-Yi Huang; Chia-Jung Chang; Chao-Hung Cheng; Yuan-Tsong Chen
Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome.
Human molecular genetics 2010;19(19):3721-33.
2010: Ching-Fen Chang; Ling-Hui Li; Chung-Hsing Wang; Fuu-Jen Tsai; Tsai-Chuan Chen; Jer-Yuarn Wu; Yuan-Tsong Chen; Anne Chun-Hui Tsai
Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome.
American journal of medical genetics. Part A 2010;152A(9):2365-71.
2010: M T Michael Lee; Shuen-Iu Hung; Chun-Yu Wei; Yuan-Tsong Chen
Pharmacogenetics of toxic epidermal necrolysis.
Expert opinion on pharmacotherapy 2010;11(13):2153-62.
2010: Amir N Saleem; Yen-Hui Chen; Hwa Jin Baek; Ya-Wen Hsiao; Hong-Wen Huang; Hsiao-Jung Kao; Kai-Ming Liu; Li-Fen Shen; I-Wen Song; Chen-Pei D Tu; Jer-Yuarn Wu; Tateki Kikuchi; Monica J Justice; Jeffrey Jong-Young Yen; Yuan-Tsong Chen
Mice with alopecia, osteoporosis, and systemic amyloidosis due to mutation in Zdhhc13, a gene coding for palmitoyl acyltransferase.
PLoS genetics 2010;6(6):e1000985.
2010: W-H Ho; Ya-Yun Lee; L-Y Chang; Yuan-Tsong Chen; Tsung-Yun Liu; Shan-Ling Hung
Effects of areca nut extract on the apoptosis pathways in human neutrophils.
Journal of periodontal research 2010;45(3):412-20.
2010: Yu-Min Lin; SJ Wu; Ting-Wei Chang; Chiu-Feng Wang; Ching-Shu Suen; Ming-Jing Hwang; Margaret Dah-Tsyr Chang; Yuan-Tsong Chen; You-Di Liao
Outer membrane protein I of Pseudomonas aeruginosa is a target of cationic antimicrobial peptide/protein.
The Journal of biological chemistry 2010;285(12):8985-94.
2010: Shuen-Iu Hung; Wen-Hung Chung; Zhi-Sheng Liu; Chien-Hsiun Chen; Mo-Song Hsih; Rosaline Chung-yee Hui; Chia-Yu Chu; Yuan-Tsong Chen
Common risk allele in aromatic antiepileptic-drug induced Stevens-Johnson syndrome and toxic epidermal necrolysis in Han Chinese.
Pharmacogenomics 2010;11(3):349-56.
2010: Fuu-Jen Tsai; Chi-Fan Yang; Ching-Chu Chen; Lee-Ming Chuang; Chieh-Hsiang Lu; Chwen-Tzuei Chang; Tzu-Yuan Wang; Rong-Hsing Chen; Chiung-Fang Shiu; Yi-Min Liu; Chih-Chun Chang; Pei Chen; Chien-Hsiun Chen; Cathy S J Fann; Yuan-Tsong Chen; Jer-Yuarn Wu
A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.
PLoS genetics 2010;6(2):e1000847.
2010: Bünyamin Akgül; Kai-Wei Lin; Hui-Mei Ou Yang; Yen-Hui Chen; Tzu-Huan Lu; Chien-Hsiun Chen; Tateki Kikuchi; Yuan-Tsong Chen; Chen-Pei D Tu
Garlic accelerates red blood cell turnover and splenic erythropoietic gene expression in mice: evidence for erythropoietin-independent erythropoiesis.
PloS one 2010;5(12):e15358.
2010: Yi-Der Jiang; Yi-Cheng Chang; Yen-Feng Chiu; Tien-Jyun Chang; Hung-Yuan Li; Wen-Hsing Lin; Hsiang-Yu Yuan; Yuan-Tsong Chen; Lee-Ming Chuang
SLC2A10 genetic polymorphism predicts development of peripheral arterial disease in patients with type 2 diabetes. SLC2A10 and PAD in type 2 diabetes.
BMC medical genetics 2010;11():126.
2010: Hsin-Chou Yang; Hsin-Chi Lin; Mei-Chu Huang; Ling-Hui Li; Wen-Harn Pan; Jer-Yuarn Wu; Yuan-Tsong Chen
A new analysis tool for individual-level allele frequency for genomic studies.
BMC genomics 2010;11():415.
2010: Wen-Hung Chung; Shuen-Iu Hung; Yuan-Tsong Chen
Genetic predisposition of life-threatening antiepileptic-induced skin reactions.
Expert opinion on drug safety 2010;9(1):15-21.
2010: Priya S Kishnani; Paula C Goldenberg; Stephanie L DeArmey; James Heller; Danny Benjamin; Sarah Young; Deeksha Bali; Sue Ann Smith; Jennifer S Li; Hanna Mandel; Dwight D Koeberl; Amy Rosenberg; Yuan-Tsong Chen
Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.
Molecular genetics and metabolism 2010;99(1):26-33.
2009: Priya S Kishnani; Tzu-Po Chuang; Deeksha Bali; Dwight D Koeberl; Stephanie Austin; David A Weinstein; Elaine Murphy; Yuan-Tsong Chen; Keri Boyette; Chu-Hao Liu; Yuan-Tsong Chen; Ling-Hui Li
Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.
Human molecular genetics 2009;18(24):4781-90.
2009: M T Michael Lee; Chien-Hsiun Chen; Ching-Heng Chou; Liang-Suei Lu; Hui-Ping Chuang; Yuan-Tsong Chen; Amir N Saleem; Ming-Shien Wen; Jin-Jer Chen; Jer-Yuarn Wu; Yuan-Tsong Chen
Genetic determinants of warfarin dosing in the Han-Chinese population.
Pharmacogenomics 2009;10(12):1905-13.
2009: Yin-Hsiu Chien; Ni-Chung Lee; Beth L Thurberg; Shu-Chuan Chiang; Xiaokui Kate Zhang; Joan Keutzer; Ai-Chu Huang; Mei-Hwan Wu; Pei-Hsin Huang; Fuu-Jen Tsai; Yuan-Tsong Chen; Wuh-Liang Hwu
Pompe disease in infants: improving the prognosis by newborn screening and early treatment.
Pediatrics 2009;124(6):e1116-25.
2009: Ming Ta Michael Lee; Chien-Hsiun Chen; Hui-Ping Chuang; Liang-Suei Lu; Ching-Heng Chou; Yuan-Tsong Chen; Chih-Yang Liu; Ming-Shien Wen; Jang-Jih Lu; Chi-Feng Chang; Jer-Yuarn Wu; Yuan-Tsong Chen
VKORC1 haplotypes in five East-Asian populations and Indians.
Pharmacogenomics 2009;10(10):1609-16.
2009: Chien-Hsing Lin; Ying-Chao Lin; Jer-Yuarn Wu; Wen-Harn Pan; Yuan-Tsong Chen; Cathy S J Fann
A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.
Genomics 2009;94(4):241-6.
2009: Dwight D Koeberl; Priya S Kishnani; Deeksha Bali; Yuan-Tsong Chen
Emerging therapies for glycogen storage disease type I.
Trends in endocrinology and metabolism: TEM 2009;20(5):252-8.
2009: Shu-Chi Mu; Hwa-Chang Liu; Jer-Yuarn Wu; Ming-Ta Michael Lee; Hui-Ping Chuang; Liang-Kuang Chen; Yuan-Tsong Chen
A large kindred of early-onset osteoarthritis of the knee and hip: excluding the link to COL2A1 gene.
Rheumatology (Oxford, England) 2009;48(4):371-4.
2009: L-Y Chang; H-C Wan; Yuen-Liang Lai; Y-F Kuo; Tsung-Yun Liu; Yuan-Tsong Chen; Shan-Ling Hung
Areca nut extracts increased expression of inflammatory cytokines, tumor necrosis factor-alpha, interleukin-1beta, interleukin-6 and interleukin-8, in peripheral blood mononuclear cells.
Journal of periodontal research 2009;44(2):175-83.
2009: Hui-Hung Wang; Yie-Wen Liao; Hung-Lun Chiang; Jer-Yuarn Wu; Yuan-Tsong Chen
Novel DNA sequence variations of cytochrome P450 genes in the Han Chinese population.
Pharmacogenomics 2009;10(3):359-74.
2009: Chao-Hung Cheng; Tateki Kikuchi; Yen-Hui Chen; Nagham George Abd-Al-Ahad Sabbagha; Yi-Ching Lee; Huei-Ju Pan; Chen Chang; Yuan-Tsong Chen
Mutations in the SLC2A10 gene cause arterial abnormalities in mice.
Cardiovascular research 2009;81(2):381-8.
2009: Ming-Jen Lee; Ching-Pang Chang; Yi-Hsin Lee; Yi-Chih Wu; Hsu-Wen Tseng; Yu-Ying Tung; Min-Tzu Wu; Yen-Hui Chen; Lu-Ting Kuo; Dennis Stephenson; Shuen-Iu Hung; Jer-Yuarn Wu; Chen Chang; Yuan-Tsong Chen; Yijuang Chern
Longitudinal evaluation of an N-ethyl-N-nitrosourea-created murine model with normal pressure hydrocephalus.
PloS one 2009;4(11):e7868.
2009: Hsin-Chou Yang; Yu-Jen Liang; Yi-Lin Wu; Chia-Min Chung; Kuang-Mao Chiang; Hung-Yun Ho; Chih-Tai Ting; Tsung-Hsien Lin; Sheng-Hsiung Sheu; Wei-Chuan Tsai; Jyh-Hong Chen; Hsin-Bang Leu; Wei-Hsian Yin; Ting-Yu Chiu; Chin-Iuan Chen; Cathy S J Fann; Jer-Yuarn Wu; Teng-nan Lin; Shing-Jong Lin; Yuan-Tsong Chen; Jaw-Wen Chen; Wen-Harn Pan
Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.
PloS one 2009;4(5):e5459.
2008: Wen-Hung Chung; Shuen-Iu Hung; Jui-yung Yang; Shih-Chi Su; Shien-Ping Huang; Chun-Yu Wei; See-Wen Chin; Chien-Chun Chiou; Sung-Chao Chu; Hsin-Chun Ho; Chih-Hsun Yang; Chi-Fang Lu; Jer-Yuarn Wu; You-Di Liao; Yuan-Tsong Chen
Granulysin is a key mediator for disseminated keratinocyte death in Stevens-Johnson syndrome and toxic epidermal necrolysis.
Nature medicine 2008;14(12):1343-50.
2008: Chien-hsing Lin; Mei-chu Huang; Ling-hui Li; Jer-Yuarn Wu; Yuan-Tsong Chen; Cathy S J Fann
Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling.
Human mutation 2008;29(8):1055-62.
2008: Yin-Hsiu Chien; Shu-Chuan Chiang; Xiaokui Kate Zhang; Joan Keutzer; Ni-Chung Lee; Ai-Chu Huang; Chun-An Chen; Mei-Hwan Wu; Pei-Hsin Huang; Fu-Jen Tsai; Yuan-Tsong Chen; Wuh-Liang Hwu
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
Pediatrics 2008;122(1):e39-45.
2008: Yan-Hau Chen; Chuan-Kun Liu; Shu-Chuan Chang; Yi-Jung Lin; Ming-Fang Tsai; Yuan-Tsong Chen; Adam Yao
GenoWatch: a disease gene mining browser for association study.
Nucleic acids research 2008;36(Web Server issue):W336-40.
2008: Chi-Fan Yang; Wuh-Liang Hwu; Li-Cheng Yang; Wen-Hung Chung; Yin-Hsiu Chien; Chia-Fu Hung; Hung-Chih Chen; Pei-Joung Tsai; Cathy S J Fann; Fang Liao; Yuan-Tsong Chen
A promoter sequence variant of ZNF750 is linked with familial psoriasis.
The Journal of investigative dermatology 2008;128(7):1662-8.
2008: Dwight D Koeberl; Carlos Pinto; Baodong Sun; Songtao Li; Daniel M Kozink; Daniel K Benjamin; Amanda K Demaster; Meghan A Kruse; Valerie Vaughn; SL Hillman; Andrew Bird; M Jackson; Talmage Brown; Priya S Kishnani; Yuan-Tsong Chen
AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia.
Molecular therapy : the journal of the American Society of Gene Therapy 2008;16(4):665-72.
2008: Praveen B Raju; Hsin-Chang Li; Deeksha S Bali; Yuan-Tsong Chen; David K Urion; Hart G W Lidov; Peter B Kang
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
Journal of child neurology 2008;23(3):349-52.
2008: CH Lin; Ling-Hui Li; Sheng-Feng Ho; Tzu-Po Chuang; Jer-Yuarn Wu; Yuan-Tsong Chen; Cathy S J Fann
A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan.
BMC genetics 2008;9():92.
2008: Chuan-Kun Liu; Yan-Hau Chen; Cheng-Yang Tang; Shu-Chuan Chang; Yi-Jung Lin; Ming-Fang Tsai; Yuan-Tsong Chen; Adam Yao
Functional analysis of novel SNPs and mutations in human and mouse genomes.
BMC bioinformatics 2008;9 Suppl 12():S10.
2008: Ming Ta Michael Lee; Anne Chun-Hui Tsai; Ching-Heng Chou; Feng-Mei Sun; Li-Chen Huang; Pauline Yen; Chyi-Chyang Lin; Chih-Yang Liu; Jer-Yuarn Wu; Yuan-Tsong Chen; Fuu-Jen Tsai
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia.
Genomic medicine 2008;2(1-2):45-9.
2008: Hsin-Chou Yang; Mei-Chu Huang; Ling-Hui Li; Chien-Hsing Lin; Alice L Yu; Mitchell B Diccianni; Jer-Yuarn Wu; Yuan-Tsong Chen; Cathy S J Fann
MPDA: microarray pooled DNA analyzer.
BMC bioinformatics 2008;9():196.
2007: Baodong Sun; Andrew Bird; Sarah P Young; Priya S Kishnani; Yuan-Tsong Chen; Dwight D Koeberl
Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.
American journal of human genetics 2007;81(5):1042-9.
2007: Wendy E Smith; Jennifer A Sullivan-Saarela; Jennifer S Li; Gerald F Cox; Deyanira Corzo; Yuan-Tsong Chen; Priya S Kishnani
Sibling phenotype concordance in classical infantile Pompe disease.
American journal of medical genetics. Part A 2007;143A(21):2493-501.
2007: Chih-Wen Ou Yang; Shuen-Iu Hung; Chiun-Gung Juo; Ya-Ping Lin; Wu-Hsiang Fang; I-Hsuan Lu; Shui-Tein Chen; Yuan-Tsong Chen
HLA-B*1502-bound peptides: implications for the pathogenesis of carbamazepine-induced Stevens-Johnson syndrome.
The Journal of allergy and clinical immunology 2007;120(4):870-7.
2007: Wen-Hung Chung; Shuen-Iu Hung; Yuan-Tsong Chen
Human leukocyte antigens and drug hypersensitivity.
Current opinion in allergy and clinical immunology 2007;7(4):317-23.
2007: Ming-Fang Tsai; Yi-Jung Lin; Yu-Chang Cheng; Kuo-Hsi Lee; Cheng-Chih Huang; Yuan-Tsong Chen; Adam Yao
PrimerZ: streamlined primer design for promoters, exons and human SNPs.
Nucleic acids research 2007;35(Web Server issue):W63-5.
2007: Laura E Case; Rabi Hanna; Donald P Frush; Vidya Krishnamurthy; Stephanie DeArmey; Joanne Mackey; Anne Boney; Claire Morgan; Deyanira Corzo; Susan Bouchard; Thomas J Weber; Yuan-Tsong Chen; Priya S Kishnani
Fractures in children with Pompe disease: a potential long-term complication.
Pediatric radiology 2007;37(5):437-45.
2007: Dwight D Koeberl; Priya S Kishnani; Yuan-Tsong Chen
Glycogen storage disease types I and II: treatment updates.
Journal of inherited metabolic disease 2007;30(2):159-64.
2007: Ming-Chang Chiang; Hui-Mei Chen; Yi-Hsin Lee; Hao-Hung Chang; Yi-Chih Wu; Bing-Wen Soong; Chiung-Mei Chen; Yih-Ru Wu; Chin-San Liu; Dau-Ming Niu; Jer-Yuarn Wu; Yuan-Tsong Chen; Yijuang Chern
Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease.
Human molecular genetics 2007;16(5):483-98.
2007: Erin Demo; Donald P Frush; Marcia R Gottfried; John Koepke; Anne Boney; Deeksha Bali; Yuan-Tsong Chen; Priya S Kishnani
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?
Journal of hepatology 2007;46(3):492-8.
2007: Brittany L Gregory; G Diane Shelton; Deeksha S Bali; Yuan-Tsong Chen; John C Fyfe
Glycogen storage disease type IIIa in curly-coated retrievers.
Journal of veterinary internal medicine / American College of Veterinary Internal Medicine 2007;21(1):40-6.
2006: Hsiao-Jung Kao; Ching-Feng Cheng; Yen-Hui Chen; Shuen-Iu Hung; Cheng-Chih Huang; David S Millington; Tateki Kikuchi; Jer-Yuarn Wu; Yuan-Tsong Chen
ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein beta-subunit.
Human molecular genetics 2006;15(24):3569-77.
2006: Baodong Sun; Haoyue Zhang; Daniel K Benjamin; Talmage Brown; Andrew Bird; Sarah P Young; Alison McVie-Wylie; Yuan-Tsong Chen; Dwight D Koeberl
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II.
Molecular therapy : the journal of the American Society of Gene Therapy 2006;14(6):822-30.
2006: Ling-Hui Li; Sheng-Feng Ho; Chien-Hsiun Chen; Chun-Yu Wei; Wan-Ching Wong; Li-Ying Li; Shuen-Iu Hung; Wen-Hung Chung; Wen-Han Pan; M T Michael Lee; Fuu-Jen Tsai; Ching-Fen Chang; Jer-Yuarn Wu; Yuan-Tsong Chen
Long contiguous stretches of homozygosity in the human genome.
Human mutation 2006;27(11):1115-21.
2006: Dau-Ming Niu; Betau Hwang; Han-Wei Hwang; Nana H Wang; Jer-Yuarn Wu; Pi-Chang Lee; Jen-Chung Chien; Ru-Chi Shieh; Yuan-Tsong Chen
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect.
Journal of medical genetics 2006;43(10):817-21.
2006: Dwight D Koeberl; B D Sun; Tirupapuliyur V Damodaran; Talmage Brown; David S Millington; Daniel K Benjamin; Andrew Bird; Ayn Schneider; SL Hillman; M Jackson; ROBERT BEATY; Yuan-Tsong Chen
Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia.
Gene therapy 2006;13(17):1281-9.
2006: Priya S Kishnani; Marc Nicolino; Thomas Voit; R. Curtis Rogers; Anne Chun-Hui Tsai; John Waterson; Gail E Herman; Andrea Amalfitano; Beth L Thurberg; Susan Richards; Mark Davison; Deyanira Corzo; Yuan-Tsong Chen
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease.
The Journal of pediatrics 2006;149(1):89-97.
2006: Hsiang-Yu Yuan; Jen-Jie Chiou; Wen-Hsien Tseng; Chia-Hung Liu; Chuan-Kun Liu; Yi-Jung Lin; Hui-Hung Wang; Adam Yao; Yuan-Tsong Chen; Chun-Nan Hsu
FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.
Nucleic acids research 2006;34(Web Server issue):W635-41.
2006: Hsin-Chou Yang; Chien-Hsin Lin; Chia-Ling Hsu; Shuen-Iu Hung; Jer-Yuan Wu; Wen-Harn Pan; Yuan-Tsong Chen; Cathy S J Fann
A comparison of major histocompatibility complex SNPs in Han Chinese residing in Taiwan and Caucasians.
Journal of biomedical science 2006;13(4):489-98.
2006: W H Lin; L M Chuang; C H Chen; J I Yeh; P S Hsieh; C H Cheng; Yuan-Tsong Chen
Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population.
Diabetologia 2006;49(6):1214-21.
2006: Amanda L Cook; Priya S Kishnani; Michael P Carboni; Ronald J Kanter; Yuan-Tsong Chen; Annette K Ansong; Richard M Kravitz; Henry Rice; Jennifer S Li
Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(5):313-7.
2006: Haoyue Zhang; Helmut Kallwass; Sarah P Young; Cortney Carr; Jian Dai; Priya S Kishnani; David S Millington; Joan Keutzer; Yuan-Tsong Chen; Deeksha Bali
Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(5):302-6.
2006: Annette K Ansong; Jennifer S Li; Eva Nozik-Grayck; Richard J Ing; Richard M Kravitz; Salim F Idriss; Ronald J Kanter; Henry Rice; Yuan-Tsong Chen; Priya S Kishnani
Electrocardiographic response to enzyme replacement therapy for Pompe disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2006;8(5):297-301.
2006: T Andrew Burrow; Robert J Hopkin; Kevin E Bove; Lili Miles; Brenda L Wong; Arabinda Choudhary; Deeksha Bali; Sing-Chung Li; Yuan-Tsong Chen
Non-lethal congenital hypotonia due to glycogen storage disease type IV.
American journal of medical genetics. Part A 2006;140(8):878-82.
2006: Shuen-Iu Hung; Wen-Hung Chung; Shiou-Hwa Jee; Wen-Chieh Chen; Yun-Ting Chang; Woan-Ruoh Lee; Shu-Ling Hu; Meng-Tse Wu; Gwo-Shing Chen; Tak-Wah Wong; Pa-Fan Hsiao; Wei-Hsuan Chen; Han-Yu Shih; Wu-Hsiang Fang; Chun-Yu Wei; Yi-Hui Lou; Yau-Li Huang; Juei-Jueng Lin; Yuan-Tsong Chen
Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions.
Pharmacogenetics and genomics 2006;16(4):297-306.
2006: Hsin-Chou Yang; Y-J Liang; M-C Huang; L-H Li; C-H Lin; J-Y Wu; Yuan-Tsong Chen; Cathy S J Fann
A genome-wide study of preferential amplification/hybridization in microarray-based pooled DNA experiments.
Nucleic acids research 2006;34(15):e106.
2006: Wen-Harn Pan; Cathy S J Fann; Jer-Yuarn Wu; Yung-Tai Hung; Mei-Shang Ho; Terence Hua Tai; Ying-Ju Chen; Chung-Ju Liao; Meng-Li Yang; Andrew T A Cheng; Yuan-Tsong Chen
Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations.
Human heredity 2006;61(1):27-30.
2005: Luis M Franco; Baodong Sun; Xiaoyi Yang; Andrew Bird; Haoyue Zhang; Ayn Schneider; Talmage Brown; Sarah P Young; Timothy M Clay; Andrea Amalfitano; Yuan-Tsong Chen; Dwight D Koeberl
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II.
Molecular therapy : the journal of the American Society of Gene Therapy 2005;12(5):876-84.
2005: Yan An; Sarah P Young; Priya S Kishnani; David S Millington; Andrea Amalfitano; Deyanira Corz; Yuan-Tsong Chen
Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.
Molecular genetics and metabolism 2005;85(4):247-54.
2005: Hsiang-Yu Yuan; Jin-Jer Chen; M T Michael Lee; Ju-Chieh Wung; Ying-Fu Chen; Min-Ji Charng; Ming-Jen Lu; Chen-Road Hung; Chun-Yu Wei; Chien-Hsiun Chen; Jer-Yuarn Wu; Yuan-Tsong Chen
A novel functional VKORC1 promoter polymorphism is associated with inter-individual and inter-ethnic differences in warfarin sensitivity.
Human molecular genetics 2005;14(13):1745-51.
2005: Yu-Fen Liu; Wei-Ming Chen; Yung-Feng Lin; Ruei-Cheng Yang; Ming-Wei Lin; Ling-Hui Li; Ya-Hui Chang; Yuh-Shan Jou; Pei-Yu Lin; Jih-Shyun Su; Shiu-Feng Huang; Kwang-Jen Hsiao; Cathy S J Fann; Hun-Way Hwang; Yuan-Tsong Chen; Shih-Feng Tsai
Type II collagen gene variants and inherited osteonecrosis of the femoral head.
The New England journal of medicine 2005;352(22):2294-301.
2005: Shuen-Iu Hung; Wen-Hung Chung; Lieh-Bang Liou; Chen-Chung Chu; Marie Lin; Hsien-Ping Huang; Yen-Ling Lin; Joung-Liang Lan; Li-Cheng Yang; Hong-Shang Hong; Ming-Jing Chen; Ping-Chin Lai; Mai-Szu Wu; Chia-Yu Chu; Kuo-Hsien Wang; Chien-Hsiun Chen; Cathy S J Fann; Jer-Yuarn Wu; Yuan-Tsong Chen
HLA-B*5801 allele as a genetic marker for severe cutaneous adverse reactions caused by allopurinol.
Proceedings of the National Academy of Sciences of the United States of America 2005;102(11):4134-9.
2005: H W Hwang; J J Chen; Y J Lin; Ru-Chi Shieh; M T Lee; Shuen-Iu Hung; Jer-Yuarn Wu; Yuan-Tsong Chen; Dau-Ming Niu; Be-Tau Hwang
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese.
Journal of medical genetics 2005;42(2):e7; author reply e8.
2005: Fang Xu; Enyu Ding; Felicia Migone; Delila Serra; Ayn Schneider; Yuan-Tsong Chen; Andrea Amalfitano
Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA.
The journal of gene medicine 2005;7(2):171-8.
2005: Luis M Franco; Vidya Krishnamurthy; Deeksha Bali; D A Weinstein; P Arn; Bryan M Clary; Anne Boney; Jennifer Sullivan; Donald P Frush; Yuan-Tsong Chen; Priya S Kishnani
Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.
Journal of inherited metabolic disease 2005;28(2):153-62.
2005: Baodong Sun; Haoyue Zhang; Luis M Franco; Sarah P Young; Ayn Schneider; Andrew Bird; Andrea Amalfitano; Yuan-Tsong Chen; Dwight D Koeberl
Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II.
Molecular therapy : the journal of the American Society of Gene Therapy 2005;11(1):57-65.
2004: Fang Xu; Enyu Ding; S X Liao; Felicia Migone; Jian Dai; Ayn Schneider; Delila Serra; Yuan-Tsong Chen; Andrea Amalfitano
Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model.
Gene therapy 2004;11(21):1590-8.
2004: Tracy E Hunley; Deyanira Corzo; Martha Dudek; Priya S Kishnani; Andrea Amalfitano; Yuan-Tsong Chen; Susan M Richards; John A Phillips; Agnes B Fogo; George E Tiller
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.
Pediatrics 2004;114(4):e532-5.
2004: Wen-Hung Chung; Shuen-Iu Hung; Hong-Shang Hong; Mo-Song Hsih; Li-Cheng Yang; Hsin-Chun Ho; Jer-Yuarn Wu; Yuan-Tsong Chen
Medical genetics: a marker for Stevens-Johnson syndrome.
Nature 2004;428(6982):486.
2004: Jer-Yuarn Wu; Hsiao-Jung Kao; Sing-Chung Li; Robert Stevens; Steven Hillman; David S Millington; Yuan-Tsong Chen
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
The Journal of clinical investigation 2004;113(3):434-40.
2003: Dwight D Koeberl; Sarah P Young; Niels Gregersen; Jerry Vockley; Wendy E Smith; Daniel K Benjamin; Yan An; Susan D Weavil; Shu Chaing; Deeksha Bali; Marie T McDonald; Priya S Kishnani; Yuan-Tsong Chen; David S Millington
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
Pediatric research 2003;54(2):219-23.
2003: Sarah P Young; Robert D Stevens; Yan An; Yuan-Tsong Chen; David S Millington
Analysis of a glucose tetrasaccharide elevated in Pompe disease by stable isotope dilution-electrospray ionization tandem mass spectrometry.
Analytical biochemistry 2003;316(2):175-80.
2003: Alison McVie-Wylie; Enyu Ding; T Lawson; Delila Serra; Felicia Migone; D Pressley; M Mizutani; T Kikuchi; Yuan-Tsong Chen; Andrea Amalfitano
Multiple muscles in the AMD quail can be "cross-corrected" of pathologic glycogen accumulation after intravenous injection of an [E1-, polymerase-] adenovirus vector encoding human acid-alpha-glucosidase.
The journal of gene medicine 2003;5(5):399-406.
2003: Baodong Sun; Yuan-Tsong Chen; Andrew Bird; Fang Xu; Yang-Xun Hou; Andrea Amalfitano; Dwight D Koeberl
Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector.
Molecular therapy : the journal of the American Society of Gene Therapy 2003;7(4):467-77.
2003: Bao-dong Sun; Yuan-Tsong Chen; Andrew Bird; Andrea Amalfitano; Dwight D Koeberl
Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector.
Molecular therapy : the journal of the American Society of Gene Therapy 2003;7(2):193-201.
2003: Andrew A Wylie; David J Pulford; Alison McVie-Wylie; Robert A Waterland; Heather K Evans; Yuan-Tsong Chen; Catherine M Nolan; Terry C Orton; Randy L Jirtle
Tissue-specific inactivation of murine M6P/IGF2R.
The American journal of pathology 2003;162(1):321-8.
2002: Dietrich Matern; Hans H Seydewitz; Deeksha Bali; Christine Lang; Yuan-Tsong Chen
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
European journal of pediatrics 2002;161 Suppl 1():S10-9.
2002: ROBERT BEATY; M Jackson; D Peterson; Andrew Bird; Talmage Brown; Daniel K Benjamin; T Juopperi; Priya S Kishnani; Anne Boney; Yuan-Tsong Chen; Dwight D Koeberl
Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors.
Gene therapy 2002;9(15):1015-22.
2002: Yuan-Tsong Chen; Deeksha Bali; Jennifer Sullivan
Prenatal diagnosis in glycogen storage diseases.
Prenatal diagnosis 2002;22(5):357-9.
2002: Enyu Ding; Huimin Hu; Bradley L Hodges; Felicia Migone; Delila Serra; Fang Xu; Yuan-Tsong Chen; Andrea Amalfitano
Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction.
Molecular therapy : the journal of the American Society of Gene Therapy 2002;5(4):436-46.
2002: Janice Yang Chou; Dietrich Matern; Brian C Mansfield; Yuan-Tsong Chen
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
Current molecular medicine 2002;2(2):121-43.
2001: W E Smith; Stephen Kahler; Donald P Frush; D E Milov; Marcia R Gottfried; Yuan-Tsong Chen
Hepatic storage of glycogen in Niemann-Pick disease type B.
The Journal of pediatrics 2001;138(6):946-8.
2001: Enyu Ding; Bradley L Hodges; Huimin Hu; Alison McVie-Wylie; Delila Serra; Felicia Migone; D Pressley; Yuan-Tsong Chen; Andrea Amalfitano
Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice.
Human gene therapy 2001;12(8):955-65.
2001: Andrea Amalfitano; A Resai Bengur; R P Morse; J M Majure; Laura E Case; D L Veerling; Joanne Mackey; Priya S Kishnani; W Smith; Alison McVie-Wylie; J A Sullivan; G E Hoganson; J A Phillips; G B Schaefer; J Charrow; R E Ware; Edward H Bossen; Yuan-Tsong Chen
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Genetics in medicine : official journal of the American College of Medical Genetics 2001;3(2):132-8.
2001: Alison McVie-Wylie; D R Lamson; Yuan-Tsong Chen
Molecular cloning of a novel member of the GLUT family of transporters, SLC2a10 (GLUT10), localized on chromosome 20q13.1: a candidate gene for NIDDM susceptibility.
Genomics 2001;72(1):113-7.
2001: Priya S Kishnani; E Faulkner; S VanCamp; M Jackson; Talmage Brown; Anne Boney; Dwight D Koeberl; Yuan-Tsong Chen
Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).
Veterinary pathology 2001;38(1):83-91.
2000: Yan An; Sarah P Young; S L Hillman; Johan L K Van Hove; Yuan-Tsong Chen; David S Millington
Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.
Analytical biochemistry 2000;287(1):136-43.
2000: Yuan-Tsong Chen; Andrea Amalfitano
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Molecular medicine today 2000;6(6):245-51.
2000: J J Shen; Dietrich Matern; David S Millington; SL Hillman; Michael D Feezor; M J Bennett; Mazin B Qumsiyeh; SG Kahler; Yuan-Tsong Chen; Johan L K Van Hove
Acylcarnitines in fibroblasts of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and other fatty acid oxidation disorders.
Journal of inherited metabolic disease 2000;23(1):27-44.
2000: WL Shaiu; Priya S Kishnani; J Shen; HM Liu; Yuan-Tsong Chen
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
Molecular genetics and metabolism 2000;69(1):16-23.
1999: Dietrich Matern; T E Starzl; W Arnaout; J Barnard; J S Bynon; A Dhawan; J Emond; Elizabeth B Haagsma; G Hug; A Lachaux; G P Smit; Yuan-Tsong Chen
Liver transplantation for glycogen storage disease types I, III, and IV.
European journal of pediatrics 1999;158 Suppl 2():S43-8.
1999: Priya S Kishnani; Anne Boney; Yuan-Tsong Chen
Nutritional deficiencies in a patient with glycogen storage disease type Ib.
Journal of inherited metabolic disease 1999;22(7):795-801.
1999: J Shen; HM Liu; Allyn McConkie-Rosell; Yuan-Tsong Chen
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.
Prenatal diagnosis 1999;19(9):837-9.
1999: Andrea Amalfitano; Alison McVie-Wylie; Huimin Hu; T L Dawson; Nina Raben; Paul H Plotz; Yuan-Tsong Chen
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(16):8861-6.
1998: HW Yang; T Kikuchi; Y Hagiwara; M Mizutani; Yuan-Tsong Chen; Johan L K Van Hove
Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts.
Pediatric research 1998;43(3):374-80.
1998: T Kikuchi; HW Yang; MF Pennybacker; Nobutsune Ichihara; M Mizutani; J L Van Hove; Yuan-Tsong Chen
Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail.
The Journal of clinical investigation 1998;101(4):827-33.
1998: J Shen; HM Liu; Allyn McConkie-Rosell; Yuan-Tsong Chen
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.
Prenatal diagnosis 1998;18(1):61-4.
1997: R Kunita; O Nakabayashi; J Y Wu; Y Hagiwara; M Mizutani; MF Pennybacker; Yuan-Tsong Chen; T Kikuchi
Molecular cloning of acid alpha-glucosidase cDNA of Japanese quail (Coturnix coturnix japonica) and the lack of its mRNA in acid maltase deficient quails.
Biochimica et biophysica acta 1997;1362(2-3):269-78.
1997: Johan L K Van Hove; HW Yang; L M Oliver; MF Pennybacker; Yuan-Tsong Chen
Purification of recombinant human precursor acid alpha-glucosidase.
Biochemistry and molecular biology international 1997;43(3):613-23.
1997: Y Bao; B Z Yang; T L Dawson; Yuan-Tsong Chen
Isolation and nucleotide sequence of human liver glycogen debranching enzyme mRNA: identification of multiple tissue-specific isoforms.
Gene 1997;197(1-2):389-98.
1997: Priya S Kishnani; Y Bao; J Y Wu; A E Brix; J L Lin; Yuan-Tsong Chen
Isolation and nucleotide sequence of canine glucose-6-phosphatase mRNA: identification of mutation in puppies with glycogen storage disease type Ia.
Biochemical and molecular medicine 1997;61(2):168-77.
1997: J Shen; HM Liu; Y Bao; Yuan-Tsong Chen
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III.
Journal of medical genetics 1997;34(1):34-8.
1997: J Shen; Y Bao; Yuan-Tsong Chen
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa.
Human mutation 1997;9(1):37-40.
1996: Y Bao; T L Dawson; Yuan-Tsong Chen
Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.
Genomics 1996;38(2):155-65.
1996: Mu Wang; Priya S Kishnani; M Decker-Phillips; SG Kahler; Yuan-Tsong Chen; M Godfrey
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
Journal of medical genetics 1996;33(9):760-3.
1996: J Shen; Y Bao; HM Liu; P Lee; J V Leonard; Yuan-Tsong Chen
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
The Journal of clinical investigation 1996;98(2):352-7.
1996: J Y Wu; Johan L K Van Hove; Y S Huang; Yuan-Tsong Chen
Expression of catalytically active human multifunctional glycogen-debranching enzyme and lysosomal acid alpha-glucosidase in insect cells.
Biochemistry and molecular biology international 1996;39(4):755-64.
1996: Y Bao; Priya S Kishnani; J Y Wu; Yuan-Tsong Chen
Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
The Journal of clinical investigation 1996;97(4):941-8.
1996: Johan L K Van Hove; H W Yang; J Y Wu; R O Brady; Yuan-Tsong Chen
High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(1):65-70.
1996: Allyn McConkie-Rosell; C Wilson; D A Piccoli; J Boyle; T DeClue; Priya S Kishnani; J J Shen; A Boney; B Brown; Yuan-Tsong Chen
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease.
Journal of inherited metabolic disease 1996;19(1):51-8.
1996: Priya S Kishnani; A Resai Bengur; Yuan-Tsong Chen
Pulmonary hypertension in glycogen storage disease type I.
Journal of inherited metabolic disease 1996;19(2):213-6.
1995: KJ Lei; Yuan-Tsong Chen; H Chen; L J Wong; J L Liu; Allyn McConkie-Rosell; Johan L K Van Hove; H C Ou; N J Yeh; L Y Pan
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
American journal of human genetics 1995;57(4):766-71.
1995: KJ Lei; L L Shelly; B Lin; J B Sidbury; Yuan-Tsong Chen; R C Nordlie; Janice Yang Chou
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
The Journal of clinical investigation 1995;95(1):234-40.
1995: Yuan-Tsong Chen; Johan L K Van Hove
Renal involvement in type I glycogen storage disease.
Advances in nephrology from the Necker Hospital 1995;24():357-65.
1994: Brage S Andresen; Thomas G Jensen; Peter Bross; I Knudsen; Vibeke Winter; Steen Kølvraa; Lars Bolund; Jia-huan Ding; Yuan-Tsong Chen; Johan L K Van Hove
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.
American journal of human genetics 1994;54(6):975-88.
1993: Johan L K Van Hove; W Zhang; SG Kahler; Charles R Roe; Yuan-Tsong Chen; N Terada; Donald H Chace; A K Iafolla; Jia-huan Ding; David S Millington
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
American journal of human genetics 1993;52(5):958-66.
1993: Yuan-Tsong Chen; C H Bazzarre; M M Lee; J B Sidbury; Rosalind A Coleman
Type I glycogen storage disease: nine years of management with cornstarch.
European journal of pediatrics 1993;152 Suppl 1():S56-9.
1992: Johan L K Van Hove; Allyn McConkie-Rosell; Yuan-Tsong Chen; A K Iafolla; J T Lanman; M D Hennessy; SG Kahler
Unbalanced translocation 46,XY,-15,+der(22)t(15;22)(q13;q11)pat: case report and review of the literature.
American journal of medical genetics 1992;44(1):24-30.
1992: Rosalind A Coleman; H S Winter; B Wolf; JM Gilchrist; Yuan-Tsong Chen
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy.
Annals of internal medicine 1992;116(11):896-900.
1992: Bing-zhi Yang; Jia-huan Ding; Jan J Enghild; Y Bao; Yuan-Tsong Chen
Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.
The Journal of biological chemistry 1992;267(13):9294-9.
1992: H K Park; HH Kay; Allyn McConkie-Rosell; J Lanman; Yuan-Tsong Chen
Prenatal diagnosis of Pompe's disease (type II glycogenosis) in chorionic villus biopsy using maltose as a substrate.
Prenatal diagnosis 1992;12(3):169-73.
1992: A K Iafolla; SG Kahler; Yuan-Tsong Chen
Low plasma citrulline concentrations during protein restriction in an unaffected infant at risk for ornithine transcarbamylase deficiency.
The Journal of pediatrics 1992;120(3):496-7.
1992: Jia-huan Ding; Bing-zhi Yang; Y Bao; Charles R Roe; Yuan-Tsong Chen
Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
American journal of human genetics 1992;50(1):229-33.
1992: Jia-huan Ding; Peter Bross; Bing-zhi Yang; A K Iafolla; David S Millington; Charles R Roe; N Gregersen; Yuan-Tsong Chen
Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles.
Progress in clinical and biological research 1992;375():479-88.
1992: David S Millington; N Terada; Donald H Chace; Yuan-Tsong Chen; Jia-huan Ding; N Kodo; Charles R Roe
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders.
Progress in clinical and biological research 1992;375():339-54.
1992: Rosalind A Coleman; H S Winter; B Wolf; Yuan-Tsong Chen
Glycogen debranching enzyme deficiency: long-term study of serum enzyme activities and clinical features.
Journal of inherited metabolic disease 1992;15(6):869-81.
1991: H K Park; Stephen Kahler; Yuan-Tsong Chen
Brain abscess in glycogen storage disease type Ib.
Acta paediatrica Scandinavica 1991;80(11):1103-6.
1991: Jia-huan Ding; Charles R Roe; A K Iafolla; Yuan-Tsong Chen
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death.
The New England journal of medicine 1991;325(1):61-2.
1991: Yuan-Tsong Chen
Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.
Pediatric nephrology (Berlin, Germany) 1991;5(1):71-6.
1991: A K Iafolla; Allyn McConkie-Rosell; Yuan-Tsong Chen
VATER and hydrocephalus: distinct syndrome?
American journal of medical genetics 1991;38(1):46-51.
1991: Yuan-Tsong Chen; J I Scheinman
Hyperglycaemia associated with lactic acidaemia in a renal allograft recipient with type I glycogen storage disease.
Journal of inherited metabolic disease 1991;14(1):80-6.
1991: Bing-zhi Yang; C Stewart; Jia-huan Ding; Yuan-Tsong Chen
Type III glycogen storage disease: an adult case with mild disease but complete absence of debrancher protein.
Neuromuscular disorders : NMD 1991;1(3):173-6.
1990: Bing-zhi Yang; Jia-huan Ding; B I Brown; Yuan-Tsong Chen
Definitive prenatal diagnosis for type III glycogen storage disease.
American journal of human genetics 1990;47(4):735-9.
1990: Yuan-Tsong Chen; J I Scheinman; H K Park; Rosalind A Coleman; Charles R Roe
Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy.
The New England journal of medicine 1990;323(9):590-3.
1990: Jia-huan Ding; T de Barsy; B I Brown; Rosalind A Coleman; Yuan-Tsong Chen
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III.
The Journal of pediatrics 1990;116(1):95-100.
1990: Yuan-Tsong Chen; K A Feinstein; Rosalind A Coleman; E L Effmann
Variability of renal length in type I glycogen storage disease.
Journal of inherited metabolic disease 1990;13(3):259-62.
1989: Allyn McConkie-Rosell; Yuan-Tsong Chen; D Harris; Marcy C Speer; Margaret Pericak-Vance; Jia-huan Ding; W Edward Highsmith; Michael Knowles; SG Kahler
Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
Annals of internal medicine 1989;111(10):797-801.
1988: Yuan-Tsong Chen; Rosalind A Coleman; J I Scheinman; P C Kolbeck; J B Sidbury
Renal disease in type I glycogen storage disease.
The New England journal of medicine 1988;318(1):7-11.
1987: Yuan-Tsong Chen; J K He; Jia-huan Ding; B I Brown
Glycogen debranching enzyme: purification, antibody characterization, and immunoblot analyses of type III glycogen storage disease.
American journal of human genetics 1987;41(6):1002-15.
1987: Yuan-Tsong Chen; J Leinhas; Rosalind A Coleman
Prolongation of normoglycemia in patients with type I glycogen storage disease.
The Journal of pediatrics 1987;111(4):567-70.