Yuan-Tsong Chen

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Lee Ming Ta Michael; Chen Chien-Hsiun; Chuang Hui-Ping; Lu Liang-Suei; Chou Ching-Heng; Chen Ying-Ting; Liu Chih-Yang; Wen Ming-Shien; Lu Jang-Jih; Chang Chi-Feng; Wu Jer-Yuarn; Chen Yuan-Tsong
VKORC1 haplotypes in five East-Asian populations and Indians.
Lin Chien-Hsing; Lin Ying-Chao; Wu Jer-Yuarn; Pan Wen-Harn; Chen Yuan-Tsong; Fann Cathy S J
A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.
Koeberl D D; Kishnani P S; Bali D; Chen Y-T
Emerging therapies for glycogen storage disease type I.

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2009: Lee Ming Ta Michael; Chen Chien-Hsiun; Chuang Hui-Ping; Lu Liang-Suei; Chou Ching-Heng; Chen Ying-Ting; Liu Chih-Yang; Wen Ming-Shien; Lu Jang-Jih; Chang Chi-Feng; Wu Jer-Yuarn; Chen Yuan-Tsong
VKORC1 haplotypes in five East-Asian populations and Indians.
Pharmacogenomics 2009;10(10):1609-16.
2009: Lin Chien-Hsing; Lin Ying-Chao; Wu Jer-Yuarn; Pan Wen-Harn; Chen Yuan-Tsong; Fann Cathy S J
A genome-wide survey of copy number variations in Han Chinese residing in Taiwan.
Genomics 2009;94(4):241-6.
2009: Koeberl D D; Kishnani P S; Bali D; Chen Y-T
Emerging therapies for glycogen storage disease type I.
Trends in endocrinology and metabolism: TEM 2009;20(5):252-8.
2009: Mu Shu-Chi; Liu Hwa-Chang; Wu Jer-Yuarn; Lee Ming-Ta Michael; Chuang Hui-Ping; Chen Liang-Kuang; Chen Yuan-Tsong
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: Chang L-Y; Wan H-C; Lai Y-L; Kuo Y-F; Liu T-Y; Chen Y-T; Hung S-L
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: Wang Hui-Hung; Liao Yie-Wen; Chiang Hung-Lun; Wu Jer-Yuarn; Chen Yuan-Tsong
Novel DNA sequence variations of cytochrome P450 genes in the Han Chinese population.
Pharmacogenomics 2009;10(3):359-74.
2009: Cheng Chao-Hung; Kikuchi Tateki; Chen Yen-Hui; Sabbagha Nagham George Abd-Al-Ahad; Lee Yi-Ching; Pan Huei-Ju; Chang Chen; Chen Yuan-Tsong
Mutations in the SLC2A10 gene cause arterial abnormalities in mice.
Cardiovascular research 2009;81(2):381-8.
2009: Yang Hsin-Chou; Liang Yu-Jen; Wu Yi-Lin; Chung Chia-Min; Chiang Kuang-Mao; Ho Hung-Yun; Ting Chih-Tai; Lin Tsung-Hsien; Sheu Sheng-Hsiung; Tsai Wei-Chuan; Chen Jyh-Hong; Leu Hsin-Bang; Yin Wei-Hsian; Chiu Ting-Yu; Chen Chin-Iuan; Fann Cathy S J; Wu Jer-Yuarn; Lin Teng-Nan; Lin Shing-Jong; Chen Yuan-Tsong; Chen Jaw-Wen; Pan Wen-Harn
Genome-wide association study of young-onset hypertension in the Han Chinese population of Taiwan.
PloS one 2009;4(5):e5459.
2008: Chung Wen-Hung; Hung Shuen-Iu; Yang Jui-Yung; Su Shih-Chi; Huang Shien-Ping; Wei Chun-Yu; Chin See-Wen; Chiou Chien-Chun; Chu Sung-Chao; Ho Hsin-Chun; Yang Chih-Hsun; Lu Chi-Fang; Wu Jer-Yuarn; Liao You-Di; Chen Yuan-Tsong
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: Lin Chien-hsing; Huang Mei-chu; Li Ling-hui; Wu Jer-yuarn; Chen Yuan-tsong; Fann Cathy S J
Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling.
Human mutation 2008;29(8):1055-62.
2008: Chien Yin-Hsiu; Chiang Shu-Chuan; Zhang Xiaokui Kate; Keutzer Joan; Lee Ni-Chung; Huang Ai-Chu; Chen Chun-An; Wu Mei-Hwan; Huang Pei-Hsin; Tsai Fu-Jen; Chen Yuan-Tsong; Hwu Wuh-Liang
Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.
Pediatrics 2008;122(1):e39-45.
2008: Chen Yan-Hau; Liu Chuan-Kun; Chang Shu-Chuan; Lin Yi-Jung; Tsai Ming-Fang; Chen Yuan-Tsong; Yao Adam
GenoWatch: a disease gene mining browser for association study.
Nucleic acids research 2008;36(Web Server issue):W336-40.
2008: 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; Chen Yuan-Tsong
A promoter sequence variant of ZNF750 is linked with familial psoriasis.
The Journal of investigative dermatology 2008;128(7):1662-8.
2008: Koeberl Dwight D; Pinto Carlos; Sun Baodong; Li Songtao; Kozink Daniel M; Benjamin Daniel K; Demaster Amanda K; Kruse Meghan A; Vaughn Valerie; Hillman Steven; Bird Andrew; Jackson Mark; Brown Talmage; Kishnani Priya S; Chen Yuan-Tsong
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: Raju G Praveen; Li Hsin-Chang; Bali Deeksha S; Chen Yuan-Tsong; Urion David K; Lidov Hart G W; Kang Peter B
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
Journal of child neurology 2008;23(3):349-52.
2008: Lee Ming Ta Michael; Tsai Anne Chun-Hui; Chou Ching-Heng; Sun Feng-Mei; Huang Li-Chen; Yen Pauline; Lin Chyi-Chyang; Liu Chih-Yang; Wu Jer-Yuarn; Chen Yuan-Tsong; Tsai Fuu-Jen
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia.
Genomic medicine 2008;2(1-2):45-9.
2008: Lin Chien-Hsing; Li Ling-Hui; Ho Sheng-Feng; Chuang Tzu-Po; Wu Jer-Yuarn; Chen Yuan-Tsong; Fann Cathy S J
A large-scale survey of genetic copy number variations among Han Chinese residing in Taiwan.
BMC genetics 2008;9():92.
2008: Liu Chuan-Kun; Chen Yan-Hau; Tang Cheng-Yang; Chang Shu-Chuan; Lin Yi-Jung; Tsai Ming-Fang; Chen Yuan-Tsong; Yao Adam
Functional analysis of novel SNPs and mutations in human and mouse genomes.
BMC bioinformatics 2008;9 Suppl 12():S10.
2008: Yang Hsin-Chou; Huang Mei-Chu; Li Ling-Hui; Lin Chien-Hsing; Yu Alice L T; Diccianni Mitchell B; Wu Jer-Yuarn; Chen Yuan-Tsong; Fann Cathy S J
MPDA: microarray pooled DNA analyzer.
BMC bioinformatics 2008;9():196.
2007: Sun Baodong; Bird Andrew; Young Sarah P; Kishnani Priya S; Chen Y-T; Koeberl Dwight D
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: Smith Wendy E; Sullivan-Saarela Jennifer A; Li Jennifer S; Cox Gerald F; Corzo Deyanira; Chen Yuan-Tsong; Kishnani Priya S
Sibling phenotype concordance in classical infantile Pompe disease.
American journal of medical genetics. Part A 2007;143A(21):2493-501.
2007: Yang Chih-Wen Ou; Hung Shuen-Iu; Juo Chiun-Gung; Lin Ya-Ping; Fang Wu-Hsiang; Lu I-Hsuan; Chen Shui-Tein; Chen Yuan-Tsong
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: Chung Wen-Hung; Hung Shuen-Iu; Chen Yuan-Tsong
Human leukocyte antigens and drug hypersensitivity.
Current opinion in allergy and clinical immunology 2007;7(4):317-23.
2007: Tsai Ming-Fang; Lin Yi-Jung; Cheng Yu-Chang; Lee Kuo-Hsi; Huang Cheng-Chih; Chen Yuan-Tsong; Yao Adam
PrimerZ: streamlined primer design for promoters, exons and human SNPs.
Nucleic acids research 2007;35(Web Server issue):W63-5.
2007: Case Laura E; Hanna Rabi; Frush Donald P; Krishnamurthy Vidya; DeArmey Stephanie; Mackey Joanne; Boney Anne; Morgan Claire; Corzo Deyanira; Bouchard Susan; Weber Thomas J; Chen Yuan-Tsong; Kishnani Priya S
Fractures in children with Pompe disease: a potential long-term complication.
Pediatric radiology 2007;37(5):437-45.
2007: Koeberl D D; Kishnani P S; Chen Y T
Glycogen storage disease types I and II: treatment updates.
Journal of inherited metabolic disease 2007;30(2):159-64.
2007: Chiang Ming-Chang; Chen Hui-Mei; Lee Yi-Hsin; Chang Hao-Hung; Wu Yi-Chih; Soong Bing-Wen; Chen Chiung-Mei; Wu Yih-Ru; Liu Chin-San; Niu Dau-Ming; Wu Jer-Yuarn; Chen Yuan-Tsong; Chern Yijuang
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: Demo Erin; Frush Donald; Gottfried Marcia; Koepke John; Boney Anne; Bali Deeksha; Chen Y T; Kishnani Priya S
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?
Journal of hepatology 2007;46(3):492-8.
2007: Gregory Brittany L; Shelton G Diane; Bali Deeksha S; Chen Yuan-Tsong; Fyfe John C
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: Kao Hsiao-Jung; Cheng Ching-Feng; Chen Yen-Hui; Hung Shuen-Iu; Huang Cheng-Chih; Millington David; Kikuchi Tateki; Wu Jer-Yuarn; Chen Yuan-Tsong
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: Sun Baodong; Zhang Haoyue; Benjamin Daniel K; Brown Talmage; Bird Andrew; Young Sarah P; McVie-Wylie Alison; Chen Y-T; Koeberl Dwight D
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: Li Ling-Hui; Ho Sheng-Feng; Chen Chien-Hsiun; Wei Chun-Yu; Wong Wan-Ching; Li Li-Ying; Hung Shuen-Iu; Chung Wen-Hung; Pan Wen-Han; Lee Ming-Ta M; Tsai Fuu-Jen; Chang Ching-Fen; Wu Jer-Yuarn; Chen Yuan-Tsong
Long contiguous stretches of homozygosity in the human genome.
Human mutation 2006;27(11):1115-21.
2006: Niu Dau-Ming; Hwang Betau; Hwang Han-Wei; Wang Nana H; Wu Jer-Yuarn; Lee Pi-Chang; Chien Jen-Chung; Shieh Ru-Chi; Chen Yuan-Tsong
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: Koeberl D D; Sun B D; Damodaran T V; Brown T; Millington D S; Benjamin D K; Bird A; Schneider A; Hillman S; Jackson M; Beaty R M; Chen Y T
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: Kishnani Priya Sunil; Nicolino Marc; Voit Thomas; Rogers R Curtis; Tsai Anne Chun-Hui; Waterson John; Herman Gail E; Amalfitano Andreas; Thurberg Beth L; Richards Susan; Davison Mark; Corzo Deyanira; Chen Y T
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: Yuan Hsiang-Yu; Chiou Jen-Jie; Tseng Wen-Hsien; Liu Chia-Hung; Liu Chuan-Kun; Lin Yi-Jung; Wang Hui-Hung; Yao Adam; Chen Yuan-Tsong; Hsu Chun-Nan
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: Yang Hsin-Chou; Lin Chien-Hsin; Hsu Chia-Ling; Hung Shuen-Iu; Wu Jer-Yuan; Pan Wen-Harn; Chen Yuan-Tsong; Fann Cathy S J
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: Lin W H; Chuang L M; Chen C H; Yeh J I; Hsieh P S; Cheng C H; Chen Y T
Association study of genetic polymorphisms of SLC2A10 gene and type 2 diabetes in the Taiwanese population.
Diabetologia 2006;49(6):1214-21.
2006: Cook Amanda L; Kishnani Priya S; Carboni Michael P; Kanter Ronald J; Chen Y T; Ansong Annette K; Kravitz Richard M; Rice Henry; Li Jennifer S
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: Zhang Haoyue; Kallwass Helmut; Young Sarah P; Carr Cortney; Dai Jian; Kishnani Priya S; Millington David S; Keutzer Joan; Chen Yuan-Tsong; Bali Deeksha
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: Ansong Annette K; Li Jennifer S; Nozik-Grayck Eva; Ing Richard; Kravitz Richard M; Idriss Salim F; Kanter Ronald J; Rice Henry; Chen Y T; Kishnani Priya S
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: Hung Shuen-Iu; Chung Wen-Hung; Jee Shiou-Hwa; Chen Wen-Chieh; Chang Yun-Ting; Lee Woan-Ruoh; Hu Shu-Ling; Wu Meng-Tse; Chen Gwo-Shing; Wong Tak-Wah; Hsiao Pa-Fan; Chen Wei-Hsuan; Shih Han-Yu; Fang Wu-Hsiang; Wei Chun-Yu; Lou Yi-Hui; Huang Yau-Li; Lin Juei-Jueng; Chen Yuan-Tsong
Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions.
Pharmacogenetics and genomics 2006;16(4):297-306.
2006: Burrow T Andrew; Hopkin Robert J; Bove Kevin E; Miles Lili; Wong Brenda L; Choudhary Arabinda; Bali Deeksha; Li Sing Chung; Chen Yuan-Tsong
Non-lethal congenital hypotonia due to glycogen storage disease type IV.
American journal of medical genetics. Part A 2006;140(8):878-82.
2006: Yang H-C; Liang Y-J; Huang M-C; Li L-H; Lin C-H; Wu J-Y; Chen Y-T; Fann C S J
A genome-wide study of preferential amplification/hybridization in microarray-based pooled DNA experiments.
Nucleic acids research 2006;34(15):e106.
2006: Pan Wen-Harn; Fann Cathy S J; Wu Jer-Yuarn; Hung Yung-Tai; Ho Mei-Shang; Tai Terence Hua; Chen Ying-Ju; Liao Chung-Ju; Yang Meng-Li; Cheng Andrew Tai-Ann; Chen Yuan-Tsong
Han Chinese cell and genome bank in Taiwan: purpose, design and ethical considerations.
Human heredity 2006;61(1):27-30.
2005: Franco Luis M; Sun Baodong; Yang Xiaoyi; Bird Andrew; Zhang Haoyue; Schneider Ayn; Brown Talmage; Young Sarah P; Clay Timothy M; Amalfitano Andrea; Chen Y T; Koeberl Dwight D
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: An Yan; Young Sarah P; Kishnani Priya S; Millington David S; Amalfitano Andrea; Corz Deyanira; Chen Yuan-Tsong
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: Yuan Hsiang-Yu; Chen Jin-Jer; Lee M T Michael; Wung Ju-Chieh; Chen Ying-Fu; Charng Min-Ji; Lu Ming-Jen; Hung Chi-Ren; Wei Chun-Yu; Chen Chien-Hsiun; Wu Jer-Yuarn; Chen Yuan-Tsong
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: Liu Yu-Fen; Chen Wei-Ming; Lin Yung-Feng; Yang Ruei-Cheng; Lin Ming-Wei; Li Ling-Hui; Chang Ya-Hui; Jou Yuh-Shan; Lin Pei-Yu; Su Jih-Shyun; Huang Shiu-Feng; Hsiao Kwang-Jen; Fann Cathy S J; Hwang Hun-Way; Chen Yuan-Tsong; Tsai Shih-Feng
Type II collagen gene variants and inherited osteonecrosis of the femoral head.
The New England journal of medicine 2005;352(22):2294-301.
2005: Hung Shuen-Iu; Chung Wen-Hung; Liou Lieh-Bang; Chu Chen-Chung; Lin Marie; Huang Hsien-Ping; Lin Yen-Ling; Lan Joung-Liang; Yang Li-Cheng; Hong Hong-Shang; Chen Ming-Jing; Lai Ping-Chin; Wu Mai-Szu; Chu Chia-Yu; Wang Kuo-Hsien; Chen Chien-Hsiun; Fann Cathy S J; Wu Jer-Yuarn; Chen Yuan-Tsong
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: Hwang H W; Chen J J; Lin Y J; Shieh R C; Lee M T; Hung S I; Wu J Y; Chen Y T; Niu D M; Hwang B T
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: Xu Fang; Ding Enyu; Migone Felicia; Serra Delila; Schneider Ayn; Chen Yuan-Tsong; Amalfitano Andrea
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: Sun Baodong; Zhang Haoyue; Franco Luis M; Young Sarah P; Schneider Ayn; Bird Andrew; Amalfitano Andrea; Chen Y-T; Koeberl Dwight D
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.
2005: Franco L M; Krishnamurthy V; Bali D; Weinstein D A; Arn P; Clary B; Boney A; Sullivan J; Frush D P; Chen Y-T; Kishnani P S
Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.
Journal of inherited metabolic disease 2005;28(2):153-62.
2004: Xu F; Ding E; Liao S X; Migone F; Dai J; Schneider A; Serra D; Chen Y T; Amalfitano A
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: Hunley Tracy E; Corzo Deyanira; Dudek Martha; Kishnani Priya; Amalfitano Andrea; Chen Yuan-Tsong; Richards Susan M; Phillips John A; Fogo Agnes B; Tiller George E
Nephrotic syndrome complicating alpha-glucosidase replacement therapy for Pompe disease.
Pediatrics 2004;114(4):e532-5.
2004: Chung Wen-Hung; Hung Shuen-Iu; Hong Hong-Shang; Hsih Mo-Song; Yang Li-Cheng; Ho Hsin-Chun; Wu Jer-Yuarn; Chen Yuan-Tsong
Medical genetics: a marker for Stevens-Johnson syndrome.
Nature 2004;428(6982):486.
2004: Wu Jer-Yuarn; Kao Hsiao-Jung; Li Sing-Chung; Stevens Robert; Hillman Steven; Millington David; Chen Yuan-Tsong
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: Koeberl Dwight D; Young Sarah P; Gregersen Niels S; Vockley Jerry; Smith Wendy E; Benjamin Daniel Kelly; An Yan; Weavil Susan D; Chaing Shu H; Bali Deeksha; McDonald Marie T; Kishnani Priya S; Chen Y-T; Millington David S
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: McVie-Wylie A J; Ding E Y; Lawson T; Serra D; Migone F K; Pressley D; Mizutani M; Kikuchi T; Chen Y T; Amalfitano A
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: Young Sarah P; Stevens Robert D; An Yan; Chen Yuan-Tsong; Millington David S
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: Sun Baodong; Chen Y-T; Bird Andrew; Xu Fang; Hou Yang-Xun; Amalfitano Andrea; Koeberl Dwight D
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: Sun Bao-dong; Chen Y-T; Bird Andrew; Amalfitano Andrea; Koeberl Dwight D
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: Wylie Andrew A; Pulford David J; McVie-Wylie Alison J; Waterland Robert A; Evans Heather K; Chen Yuan-Tsong; Nolan Catherine M; Orton Terry C; Jirtle Randy L
Tissue-specific inactivation of murine M6P/IGF2R.
The American journal of pathology 2003;162(1):321-8.
2002: Matern Dietrich; Seydewitz Hans Hermann; Bali Deeksha; Lang Christine; Chen Yuan-Tsong
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
European journal of pediatrics 2002;161 Suppl 1():S10-9.
2002: Beaty R M; Jackson M; Peterson D; Bird A; Brown T; Benjamin D K; Juopperi T; Kishnani P; Boney A; Chen Y T; Koeberl D D
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: Chen Yuan-Tsong; Bali Deeksha; Sullivan Jennifer
Prenatal diagnosis in glycogen storage diseases.
Prenatal diagnosis 2002;22(5):357-9.
2002: Ding Enyu; Hu Huimin; Hodges Bradley L; Migone Felicia; Serra Delila; Xu Fang; Chen Yuan-Tsong; Amalfitano Andrea
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: Chou Janice Yang; Matern Dietrich; Mansfield Brian C; Chen Yuan-Tsong
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.
Current molecular medicine 2002;2(2):121-43.
2001: Smith W E; Kahler S G; Frush D P; Milov D E; Gottfried M R; Chen Y T
Hepatic storage of glycogen in Niemann-Pick disease type B.
The Journal of pediatrics 2001;138(6):946-8.
2001: Ding E Y; Hodges B L; Hu H; McVie-Wylie A J; Serra D; Migone F K; Pressley D; Chen Y T; Amalfitano A
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: Amalfitano A; Bengur A R; Morse R P; Majure J M; Case L E; Veerling D L; Mackey J; Kishnani P; Smith W; McVie-Wylie A; Sullivan J A; Hoganson G E; Phillips J A; Schaefer G B; Charrow J; Ware R E; Bossen E H; Chen Y T
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: McVie-Wylie A J; Lamson D R; Chen Y T
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: Kishnani P S; Faulkner E; VanCamp S; Jackson M; Brown T; Boney A; Koeberl D; Chen Y T
Canine model and genomic structural organization of glycogen storage disease type Ia (GSD Ia).
Veterinary pathology 2001;38(1):83-91.
2000: An Y; Young S P; Hillman S L; Van Hove J L; Chen Y T; Millington D S
Liquid chromatographic assay for a glucose tetrasaccharide, a putative biomarker for the diagnosis of Pompe disease.
Analytical biochemistry 2000;287(1):136-43.
2000: Chen Y T; Amalfitano A
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Molecular medicine today 2000;6(6):245-51.
2000: Shen J J; Matern D; Millington D S; Hillman S; Feezor M D; Bennett M J; Qumsiyeh M; Kahler S G; Chen Y T; Van Hove J L
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: Shaiu W L; Kishnani P S; Shen J; Liu H M; Chen Y T
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: Matern D; Starzl T E; Arnaout W; Barnard J; Bynon J S; Dhawan A; Emond J; Haagsma E B; Hug G; Lachaux A; Smit G P; Chen Y T
Liver transplantation for glycogen storage disease types I, III, and IV.
European journal of pediatrics 1999;158 Suppl 2():S43-8.
1999: Kishnani P S; Boney A; Chen Y T
Nutritional deficiencies in a patient with glycogen storage disease type Ib.
Journal of inherited metabolic disease 1999;22(7):795-801.
1999: Shen J; Liu H M; McConkie-Rosell A; Chen Y T
Prenatal diagnosis of glycogen storage disease type IV using PCR-based DNA mutation analysis.
Prenatal diagnosis 1999;19(9):837-9.
1999: Amalfitano A; McVie-Wylie A J; Hu H; Dawson T L; Raben N; Plotz P; Chen Y T
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: Yang H W; Kikuchi T; Hagiwara Y; Mizutani M; Chen Y T; Van Hove J L
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: Kikuchi T; Yang H W; Pennybacker M; Ichihara N; Mizutani M; Van Hove J L; Chen Y T
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: Shen J; Liu H M; McConkie-Rosell A; Chen Y T
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.
Prenatal diagnosis 1998;18(1):61-4.
1997: Kunita R; Nakabayashi O; Wu J Y; Hagiwara Y; Mizutani M; Pennybacker M; Chen Y T; Kikuchi T
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: Van Hove J L; Yang H W; Oliver L M; Pennybacker M F; Chen Y T
Purification of recombinant human precursor acid alpha-glucosidase.
Biochemistry and molecular biology international 1997;43(3):613-23.
1997: Bao Y; Yang B Z; Dawson T L; Chen Y T
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: Kishnani P S; Bao Y; Wu J Y; Brix A E; Lin J L; Chen Y T
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: Shen J; Liu H M; Bao Y; Chen Y T
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: Shen J; Bao Y; Chen Y T
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: Bao Y; Dawson T L; Chen Y T
Human glycogen debranching enzyme gene (AGL): complete structural organization and characterization of the 5' flanking region.
Genomics 1996;38(2):155-65.
1996: Wang M; Kishnani P; Decker-Phillips M; Kahler S G; Chen Y T; Godfrey M
Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome.
Journal of medical genetics 1996;33(9):760-3.
1996: Wu J Y; Van Hove J L; Huang Y S; Chen Y T
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: Shen J; Bao Y; Liu H M; Lee P; Leonard J V; Chen Y T
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: Bao Y; Kishnani P; Wu J Y; Chen Y T
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: Van Hove J L; Yang H W; Wu J Y; Brady R O; Chen Y T
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: McConkie-Rosell A; Wilson C; Piccoli D A; Boyle J; DeClue T; Kishnani P; Shen J J; Boney A; Brown B; Chen Y T
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: Kishnani P; Bengur A R; Chen Y T
Pulmonary hypertension in glycogen storage disease type I.
Journal of inherited metabolic disease 1996;19(2):213-6.
1995: Lei K J; Chen Y T; Chen H; Wong L J; Liu J L; McConkie-Rosell A; Van Hove J L; Ou H C; Yeh N J; Pan L Y
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: Lei K J; Shelly L L; Lin B; Sidbury J B; Chen Y T; Nordlie R C; Chou J Y
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: Chen Y T; Van Hove J L
Renal involvement in type I glycogen storage disease.
Advances in nephrology from the Necker Hospital 1995;24():357-65.
1994: Andresen B S; Jensen T G; Bross P; Knudsen I; Winter V; Kølvraa S; Bolund L; Ding J H; Chen Y T; Van Hove J L
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: Van Hove J L; Zhang W; Kahler S G; Roe C R; Chen Y T; Terada N; Chace D H; Iafolla A K; Ding J H; Millington D S
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood.
American journal of human genetics 1993;52(5):958-66.
1993: Chen Y T; Bazzarre C H; Lee M M; Sidbury J B; Coleman R A
Type I glycogen storage disease: nine years of management with cornstarch.
European journal of pediatrics 1993;152 Suppl 1():S56-9.
1992: Van Hove J L; McConkie-Rosell A; Chen Y T; Iafolla A K; Lanman J T; Hennessy M D; Kahler S G
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: Coleman R A; Winter H S; Wolf B; Gilchrist J M; Chen Y T
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: Yang B Z; Ding J H; Enghild J J; Bao Y; Chen Y T
Molecular cloning and nucleotide sequence of cDNA encoding human muscle glycogen debranching enzyme.
The Journal of biological chemistry 1992;267(13):9294-9.
1992: Park H K; Kay H H; McConkie-Rosell A; Lanman J; Chen Y T
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: Iafolla A K; Kahler S G; Chen Y T
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: Ding J H; Yang B Z; Bao Y; Roe C R; Chen Y T
Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
American journal of human genetics 1992;50(1):229-33.
1992: Ding J H; Bross P; Yang B Z; Iafolla A K; Millington D S; Roe C R; Gregersen N; Chen Y T
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: Millington D S; Terada N; Chace D H; Chen Y T; Ding J H; Kodo N; Roe C R
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: Coleman R A; Winter H S; Wolf B; Chen Y T
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: Park H K; Kahler S G; Chen Y T
Brain abscess in glycogen storage disease type Ib.
Acta paediatrica Scandinavica 1991;80(11):1103-6.
1991: Ding J H; Roe C R; Iafolla A K; Chen Y T
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death.
The New England journal of medicine 1991;325(1):61-2.
1991: Chen Y T
Type I glycogen storage disease: kidney involvement, pathogenesis and its treatment.
Pediatric nephrology (Berlin, Germany) 1991;5(1):71-6.
1991: Iafolla A K; McConkie-Rosell A; Chen Y T
VATER and hydrocephalus: distinct syndrome?
American journal of medical genetics 1991;38(1):46-51.
1991: Chen Y T; Scheinman J I
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: Yang B Z; Stewart C; Ding J H; Chen Y T
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: Yang B Z; Ding J H; Brown B I; Chen Y T
Definitive prenatal diagnosis for type III glycogen storage disease.
American journal of human genetics 1990;47(4):735-9.
1990: Chen Y T; Scheinman J I; Park H K; Coleman R A; Roe C R
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: Ding J H; de Barsy T; Brown B I; Coleman R A; Chen Y T
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: Chen Y T; Feinstein K A; Coleman R A; Effmann E L
Variability of renal length in type I glycogen storage disease.
Journal of inherited metabolic disease 1990;13(3):259-62.
1989: McConkie-Rosell A; Chen Y T; Harris D; Speer M C; Pericak-Vance M A; Ding J H; Highsmith W E; Knowles M; Kahler S G
Mild cystic fibrosis linked to chromosome 7q22 markers with an uncommon haplotype.
Annals of internal medicine 1989;111(10):797-801.
1988: Chen Y T; Coleman R A; Scheinman J I; Kolbeck P C; Sidbury J B
Renal disease in type I glycogen storage disease.
The New England journal of medicine 1988;318(1):7-11.
1987: Chen Y T; He J K; Ding J H; Brown B I
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: Chen Y T; Leinhas J; Coleman R A
Prolongation of normoglycemia in patients with type I glycogen storage disease.
The Journal of pediatrics 1987;111(4):567-70.

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