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Wuh-Liang Hwu

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Yi-Chen Chen; Yin-Hsiu Chien; Pao-Chin Chiu; Wuh-Liang Hwu; Pin-Wen Chen; Nelson Leung-Sang Tang; Ni-Chung Lee
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
Ni-Chung Lee; Shin-ichi Muramatsu; Yih-Dar Shieh; Kai-Yuan Tzen; I-Shing Yu; Pin-Wen Chen; Yin-Hsiu Chien; Min-Hsiu Hu; Meng-kai Hu; Hiroshi Ichinose; Wuh-Liang Hwu
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
Tim C Wood; Chunli Yu; Michael Beck; Maira G Burin; Yin-Hsiu Chien; Heather J Church; Vânia D'Almeida; Michael Fietz; Roberto Giugliani; Paul Harmatz; Katie Harvey; Sara M Hawley; Wuh-Liang Hwu; David Ketteridge; Zoltan Lukacs; Nicole Miller; Marzia Pasquali; Andrea Schenone; Jerry N Thompson; Karen Tylee; Otto P van Diggelen; Chris Hendriksz
Diagnosing mucopolysaccharidosis IVA.

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2013: Yi-Chen Chen; Yin-Hsiu Chien; Pao-Chin Chiu; Wuh-Liang Hwu; Pin-Wen Chen; Nelson Leung-Sang Tang; Ni-Chung Lee
Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation.
Human mutation 2013;34(4):655.
2013: Ni-Chung Lee; Shin-ichi Muramatsu; Yih-Dar Shieh; Kai-Yuan Tzen; I-Shing Yu; Pin-Wen Chen; Yin-Hsiu Chien; Min-Hsiu Hu; Meng-kai Hu; Hiroshi Ichinose; Wuh-Liang Hwu
Regulation of the dopaminergic system in a murine model of aromatic L-amino acid decarboxylase deficiency.
Neurobiology of disease 2013;52():177-90.
2013: Tim C Wood; Chunli Yu; Michael Beck; Maira G Burin; Yin-Hsiu Chien; Heather J Church; Vânia D'Almeida; Michael Fietz; Roberto Giugliani; Paul Harmatz; Katie Harvey; Sara M Hawley; Wuh-Liang Hwu; David Ketteridge; Zoltan Lukacs; Nicole Miller; Marzia Pasquali; Andrea Schenone; Jerry N Thompson; Karen Tylee; Otto P van Diggelen; Chris Hendriksz
Diagnosing mucopolysaccharidosis IVA.
Journal of inherited metabolic disease 2013;36(2):293-307.
2013: Chee-Seng Lee; Shinn-Forng Peng; Lih-Maan Chang; Pin-Wen Cheng; Yin-Hsiu Chien; Ai-Chu Huang; Wuh-Liang Hwu; Ni-Chung Lee
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
Metabolic brain disease 2013;28(1):61-7.
2013: Jing Wang; Lee-Jun Wong; Yin-Hsiu Chien; William J Craigen; Hong Cui; Wuh-Liang Hwu; Ni-Chung Lee; Victor Wei Zhang
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Genetics in medicine : official journal of the American College of Medical Genetics 2013;15(2):106-14.
2013: Li-Yun Wang; Wuh-Liang Hwu; Ni-Chung Lee; Nien-I Chen; Pin-Wen Chen; Shu-Chuan Chiang; Yin-Hsiu Chien
Newborn screening for citrin deficiency and carnitine uptake defect using second-tier molecular tests.
BMC medical genetics 2013;14():24.
2013: Yin-Hsiu Chien; A C Huang; Ni-Chung Lee; Shinn-Forng Peng; S C Su; Li-Kai Tsai; C C Tseng; Chih-Chao Yang; Wuh-Liang Hwu
Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C.
Journal of inherited metabolic disease 2013;36(1):129-37.
2012: Szu-Ta Chen; Yin-Hsiu Chien; Wuh-Liang Hwu; Ni-Chung Lee; Yen-Hsuan Ni; Yi-Ning Su; Cheng-Chi Chang; Huey-Ling Chen; Mei-Hwei Chang
Diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency using high-resolution melting analysis and a clinical scoring system.
The Journal of pediatrics 2012;161(4):626-31.e2.
2012: Wuh-Liang Hwu; Motomichi Kosuga; Shuan-Pei Lin; Wai Man But; Sylvia Estrada; Xuefan Gu; Joannie Hui; Lock-Hock Ngu; Torayuki Okuyama; Huiping Shi; Akemi Tanaka; Meow-Keong Thong; Pornswan Wasant; Duangrurdee Wattanasirichaigoon; Jim McGill
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region.
Molecular genetics and metabolism 2012;107(1-2):136-44.
2012: Hsin-Ming Liu; Shinn-Forng Peng; I-Jung Tsai; Li-Ping Tsai; Wen-Chin Weng; En-Ting Wu; Jia-Feng Wu; Yin-Hsiu Chien; Pei-Hsin Huang; Wuh-Liang Hwu; Wang-Tso Lee; Ni-Chung Lee
A novel 3670-base pair mitochondrial DNA deletion resulting in multi-systemic manifestations in a child.
Pediatrics and neonatology 2012;53(4):264-8.
2012: Wei-Hsin Chen; Yin-Hsiu Chien; Feipei Lai; Yu-Wen Lu; Wuh-Liang Hwu
Integrating human genome database into electronic health record with sequence alignment and compression mechanism.
Journal of medical systems 2012;36(4):2587-97.
2012: Shu-Chuan Chiang; Li-Wen Hsu; Wuh-Liang Hwu; Ni-Chung Lee; Yin-Hsiu Chien
Algorithm for Pompe disease newborn screening: results from the Taiwan screening program.
Molecular genetics and metabolism 2012;106(3):281-6.
2012: Wuh-Liang Hwu; Ni-Chung Lee; Shin-ichi Muramatsu; Richard O Snyder; Chun-Hwei Tai; Sheng-Hong Tseng; Kai-Yuan Tzen; Barry J Byrne; Yin-Hsiu Chien; Ruey-Meei Wu
Gene therapy for aromatic L-amino acid decarboxylase deficiency.
Science translational medicine 2012;4(134):134ra61.
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: Shih-Hao Wang; Chen-Chi Wu; I-Shing Yu; Wuh-Liang Hwu; Yin-Hung Lin; Ying-Chang Lu; Yi-Ning Su; Chuan-Jen Hsu
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.
The Laryngoscope 2012;122(5):1130-6.
2012: Yin-Hsiu Chien; Pei-Hsin Huang; Ni-Chung Lee; Wang-Tso Lee; Beth L Thurberg; Wuh-Liang Hwu
Early pathologic changes and responses to treatment in patients with later-onset Pompe disease.
Pediatric neurology 2012;46(3):168-71.
2012: Wen-Hong Kuo; Ching-Hung Lin; Po-Han Lin; Tsang-Pai Liu; Yen-Shen Lu; Aaron M Sargeant; Ann-Lii Cheng; Yin-Hsiu Chien; Fon-Jou Hsieh; Ai-Chu Huang; Wuh-Liang Hwu; Li-Yuan Bai; King-Jen Chang
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.
Journal of human genetics 2012;57(2):130-8.
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: Ni-Chung Lee; Stacy L Porvasnik; Mark Potter; Rachael Watson; Marda L Jorgensen; Barry J Byrne; Yin-Hsiu Chien; Hung-Chuan Chiu; Nathalie Clement; Thomas J Conlon; Kirsten E Erger; Darin J Falk; Steven C Ghivizzani; Wuh-Liang Hwu
An acidic oligopeptide displayed on AAV2 improves axial muscle tropism after systemic delivery.
Genetic vaccines and therapy 2012;10(1):3.
2012: Chen-Hsiang Yeang; Alan D Cameron; Shun-Ping Chang; Chih-Ping Chen; Hung-Chieh Chou; Norman A Ginsberg; Wuh-Liang Hwu; Shou-Jen Kuo; Yi-Shing Lin; Chin-San Liu; Gwo-Chin Ma; Jin-Chung Shih; Sheng-Hai Wu; Yu-Shih Yang; Ming Chen
Genome-wide gene expression analysis implicates the immune response and lymphangiogenesis in the pathogenesis of fetal chylothorax.
PloS one 2012;7(4):e34901.
2012: Yin-Hsiu Chien; Robert J Desnick; Shu-Chuan Chiang; Ni-Chung Lee; Wuh-Liang Hwu
Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.
Molecular medicine (Cambridge, Mass.) 2012;18():780-4.
2012: Li-Kai Tsai; Chen-Hung Ting; Yi-Chun Chen; Seng H Cheng; Wei-Cheng Cheng; James C Dodge; Wuh-Liang Hwu; Marco A Passini
IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice.
Neurobiology of disease 2012;45(1):272-9.
2011: Hsiang-Po Huang; Wuh-Liang Hwu; Li-Tzu Li; Lee Stone; Chung-Hsuan Chen; Hsin-Fu Chen; Pin-Hsun Chen; Shu-Chuan Chiang; Chung-Liang Chien; Yin-Hsiu Chien; Ching-Yu Chuang; Hong-Nerng Ho; Hung-Chih Kuo
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification.
Human molecular genetics 2011;20(24):4851-64.
2011: Chun-An Chen; Lei-Ru Chen; Yin-Hsiu Chien; Hsin-Hui Chiu; Shuenn-Nan Chiu; Wuh-Liang Hwu; Ni-Chung Lee; Ming-Tai Lin; Chun-Wei Lu; Jou-Kou Wang; Mei-Hwan Wu
Left ventricular geometry, global function, and dyssynchrony in infants and children with pompe cardiomyopathy undergoing enzyme replacement therapy.
Journal of cardiac failure 2011;17(11):930-6.
2011: Chih-Chao Yang; Shun-Sheng Chen; Shu-Chuan Chiang; Yin-Hsiu Chien; Yuh-Jyh Jong; Yung-Ting Kuo; Ni-Chung Lee; Shuan-Pei Lin; Wuh-Liang Hwu
Rapid progressive course of later-onset Pompe disease in Chinese patients.
Molecular genetics and metabolism 2011;104(3):284-8.
2011: Arnold J J Reuser; Otto P van Diggelen; Frans W Verheijen; Birgit Wuyts; Kate Zhang; Deeksha Bali; Dominique P Germain; Wuh-Liang Hwu; Zoltan Lukacs; Adolf Mühl; Petra Olivova; Monique Piraud; Joan Keutzer
The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.
Molecular genetics and metabolism 2011;104(1-2):144-8.
2011: Yin-Hsiu Chien; Ni-Chung Lee; Hsiang-Ju Huang; Beth L Thurberg; Fuu-Jen Tsai; Wuh-Liang Hwu
Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening.
The Journal of pediatrics 2011;158(6):1023-1027.e1.
2011: Ni-Chung Lee; Wen-Yu Tsai; Shinn-Forng Peng; Yi-Ching Tung; Yin-Hsiu Chien; Wuh-Liang Hwu
Congenital hypopituitarism due to POU1F1 gene mutation.
Journal of the Formosan Medical Association = Taiwan yi zhi 2011;110(1):58-61.
2011: Yin-Hsiu Chien; Petra Olivova; Xiaokui Kate Zhang; Shu-Chuan Chiang; Ni-Chung Lee; Joan Keutzer; Wuh-Liang Hwu
Elevation of urinary globotriaosylceramide (GL3) in infants with Fabry disease.
Molecular genetics and metabolism 2011;102(1):57-60.
2010: Christiane Auray-Blais; Aimé Ntwari; Joe T R Clarke; David G Warnock; João Paulo Oliveira; Sarah P Young; David S Millington; Daniel G Bichet; Sandra Sirrs; Michael L West; Robin Casey; Wuh-Liang Hwu; Joan M Keutzer; X Kate Zhang; René Gagnon
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
Clinica chimica acta; international journal of clinical chemistry 2010;411(23-24):1906-14.
2010: Nina Raben; Evelyn Ralston; Yin-Hsiu Chien; Rebecca Baum; Cynthia Schreiner; Wuh-Liang Hwu; Kristien Zaal; Paul H Plotz
Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy.
Molecular genetics and metabolism 2010;101(4):324-31.
2010: 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
Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry.
Clinica chimica acta; international journal of clinical chemistry 2010;411(19-20):1428-31.
2010: Joaquín Fernández-Irigoyen; Enrique Santamaría; Yin-Hsiu Chien; Wuh-Liang Hwu; Stanley H Korman; Hanna Faghfoury; Andreas Schulze; George Hoganson; Sally P Stabler; Robert H Allen; Conrad Wagner; S Harvey Mudd; Fernando J Corrales
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia.
Molecular genetics and metabolism 2010;101(2-3):172-7.
2010: Dau-Ming Niu; Yin-Hsiu Chien; Chuan-Chi Chiang; Hui-Chen Ho; Wuh-Liang Hwu; Shu-Min Kao; Szu-Hui Chiang; Chuan-Hong Kao; Tze-Tze Liu; Hung Chiang; Kwang-Jen Hsiao
Nationwide survey of extended newborn screening by tandem mass spectrometry in Taiwan.
Journal of inherited metabolic disease 2010;33(Suppl 2):S295-305.
2010: Ni-Chung Lee; Ming Chen; Gwo-Chin Ma; Dong-Jay Lee; Tzu-Jou Wang; Yu-Yuan Ke; Yin-Hsiu Chien; Wuh-Liang Hwu
Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints.
American journal of medical genetics. Part A 2010;152A(9):2327-34.
2010: Yin-Hsiu Chien; Ni-Chung Lee; Fu-Jen Tsai; Mei-Chyn Chao; Wuh-Liang Hwu
Reduction in imiglucerase dosage causes immediate rise of chitotriosidase activity in patients with Gaucher disease.
Molecular genetics and metabolism 2010;101(1):90-1.
2010: Wei-Yi Hsu; Wei-De Lin; Wuh-Liang Hwu; Chien-Chen Lai; Fuu-Jen Tsai
Screening assay of very long chain fatty acids in human plasma with multiwalled carbon nanotube-based surface-assisted laser desorption/ionization mass spectrometry.
Analytical chemistry 2010;82(16):6814-20.
2010: Wuh-Liang Hwu; Yin-Hsiu Chien; Ni-Chung Lee
Newborn screening for neuropathic lysosomal storage disorders.
Journal of inherited metabolic disease 2010;33(4):381-6.
2010: Kang-Hsiang Cheng; Mei-Ying Liu; Chuan-Hong Kao; Yann-Jang Chen; Kwang-Jen Hsiao; Tze-Tze Liu; Hsiang-Yu Lin; Cheng-Hung Huang; Chuan-Chi Chiang; Huey-Jane Ho; Shuan-Pei Lin; Ni-Chung Lee; Wuh-Liang Hwu; Ju-Li Lin; Ping-Yao Hung; Dau-Ming Niu
Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan.
Journal of the Chinese Medical Association : JCMA 2010;73(6):314-8.
2010: Ni-Chung Lee; Nelson Leung-Sang Tang; Yin-Hsiu Chien; Chun-An Chen; Sho-Juan Lin; Pao-Chin Chiu; Ai-Chu Huang; Wuh-Liang Hwu
Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening.
Molecular genetics and metabolism 2010;100(1):46-50.
2010: P W Chen; Wuh-Liang Hwu; Ming-Chih Ho; Ni-Chung Lee; Yin-Hsiu Chien; Yen-Hsuan Ni; Po-Huang Lee
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation.
Pediatric transplantation 2010;14(3):337-41.
2010: Wei-De Lin; I-Ching Chou; Ni-Chung Lee; Chung-Hsing Wang; Wuh-Liang Hwu; Shuan-Pei Lin; Mei-Chyn Chao; Yuhsin Tsai; Fuu-Jen Tsai
FOXL2 mutations in Taiwanese patients with blepharophimosis, ptosis, epicanthus inversus syndrome.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2010;48(4):485-8.
2010: Paul Labrousse; Yin-Hsiu Chien; Robert J Pomponio; Joan Keutzer; Ni-Chung Lee; Viatcheslav R Akmaev; Thomas Scholl; Wuh-Liang Hwu
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
Molecular genetics and metabolism 2010;99(4):379-83.
2010: Kai-Ling Chang; Wuh-Liang Hwu; Hui-Ying Yeh; Ni-Chung Lee; Yin-Hsiu Chien
CCL18 as an alternative marker in Gaucher and Niemann-Pick disease with chitotriosidase deficiency.
Blood cells, molecules & diseases 2010;44(1):38-40.
2010: Neal J Weinreb; Maria D Cappellini; Timothy M Cox; Edward H Giannini; Gregory A Grabowski; Wuh-Liang Hwu; Henry Mankin; Ana Maria Martins; Carolyn Sawyer; Stephan vom Dahl; Michael S Yeh; Ari Zimran
A validated disease severity scoring system for adults with type 1 Gaucher disease.
Genetics in medicine : official journal of the American College of Medical Genetics 2010;12(1):44-51.
2010: Chen-Chi Wu; Ying-Chang Lu; Pei-Jer Chen; Po-Lin Yeh; Yi-Nin Su; Wuh-Liang Hwu; Chuan-Jen Hsu
Phenotypic analyses and mutation screening of the SLC26A4 and FOXI1 genes in 101 Taiwanese families with bilateral nonsyndromic enlarged vestibular aqueduct (DFNB4) or Pendred syndrome.
Audiology & neuro-otology 2010;15(1):57-66.
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: Chen-Chi Wu; Ying-Chang Lu; Pei-Jer Chen; Alyssa Yan-Zhen Liu; Wuh-Liang Hwu; Chuan-Jen Hsu
Application of SNaPshot multiplex assays for simultaneous multigene mutation screening in patients with idiopathic sensorineural hearing impairment.
The Laryngoscope 2009;119(12):2411-6.
2009: Ni-Chung Lee; Shun-Ping Chang; Cheng-Shyong Chang; Chia-Hsiang Chen; Dong-Jay Lee; Chyi-Chyang Lin; Wuh-Liang Hwu; Ming Chen
Cryptic subtelomeric deletion plus inverted duplication at chromosome 18q in a fetus: molecular delineation by multicolor banding.
Prenatal diagnosis 2009;29(11):1058-60.
2009: Szu-Ta Chen; Huey-Ling Chen; Yen-Hsuan Ni; Yin-Hsiu Chien; Yung-Ming Jeng; Mei-Hwei Chang; Wuh-Liang Hwu
X-linked liver glycogenosis in a Taiwanese family: transmission from undiagnosed males.
Pediatrics and neonatology 2009;50(5):230-3.
2009: Wuh-Liang Hwu; Yin-Hsiu Chien; Ni-Chung Lee; Shu-Chuan Chiang; Robert Dobrovolny; Ai-Chu Huang; Hui-Ying Yeh; May-Chin Chao; Shio-Jean Lin; Teruo Kitagawa; Robert J Desnick; Li-Wen Hsu
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Human mutation 2009;30(10):1397-405.
2009: 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
Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.
The Journal of pediatrics 2009;155(2):271-5.e2.
2009: Jan P Kraus; Jindrich Hasek; Viktor Kozich; Renata Collard; Sarah Venezia; Bohumila Janosíková; Jian Wang; Sally P Stabler; Robert H Allen; Cornelis Jakobs; Christine T Finn; Yin-Hsiu Chien; Wuh-Liang Hwu; Robert A Hegele; S Harvey Mudd
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
Molecular genetics and metabolism 2009;97(4):250-9.
2009: Pei-Wen Chiang; Ni-Chung Lee; Nancy Chien; Wuh-Liang Hwu; Elaine Spector; Anne Chun-Hui Tsai
Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.
American journal of medical genetics. Part A 2009;149A(7):1463-7.
2009: Jao-Shwann Liang; Yin-Hsiu Chien; Wuh-Liang Hwu; Shu-Jen Yeh; Shinn-Forng Peng
Schizencephaly in LEOPARD syndrome.
Pediatric neurology 2009;41(1):71-3.
2009: Hui-Ju Hsiao; Hsiu-Hao Chang; Wuh-Liang Hwu; Ching-Wan Lam; Ni-Chung Lee; Yin-Hsiu Chien
Glycogen storage disease type Ib: the first case in Taiwan.
Pediatrics and neonatology 2009;50(3):125-8.
2009: Hsiang-Yu Lin; Shuan-Pei Lin; Chih-Kuang Chuang; Dau-Ming Niu; Ming-Ren Chen; Fuu-Jen Tsai; Mei-Chyn Chao; Pao-Chin Chiu; Shio-Jean Lin; Li-Ping Tsai; Wuh-Liang Hwu; Ju-Li Lin
Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004.
American journal of medical genetics. Part A 2009;149A(5):960-4.
2009: Lung-Chang Lin; Wuh-Liang Hwu; Rei-Cheng Yang
Hyperammonemia and positive allopurinol test in hyperinsulinism-hyperammonemia syndrome: Taiwanese case report.
Pediatrics international : official journal of the Japan Pediatric Society 2009;51(2):305-7.
2009: Yin-Hsiu Chien; Wuh-Liang Hwu
Novel human pathological mutations. Gene symbol: GLA. Disease: Fabry disease.
Human genetics 2009;125(3):336.
2009: Ni-Chung Lee; Jan D Marshall; Gayle B Collin; Jürgen K Naggert; Yin-Hsiu Chien; Wen-Yu Tsai; Wuh-Liang Hwu
Caloric restriction in Alström syndrome prevents hyperinsulinemia.
American journal of medical genetics. Part A 2009;149A(4):666-8.
2009: Li-Kai Tsai; Chih-Chao Yang; Chen-Hung Ting; Yi-Ning Su; Wuh-Liang Hwu; Hung Li
Correlation of survival motor neuron expression in leukocytes and spinal cord in spinal muscular atrophy.
The Journal of pediatrics 2009;154(2):303-5.
2009: Yin-Hsiu Chien; Hsiang-Po Huang; Wuh-Liang Hwu; Yin-Hsiu Chien; Tseng-Ching Chang; Ni-Chung Lee
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
Molecular vision 2009;15():2139-45.
2008: 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
Brain damage by mild metabolic derangements in methylmalonic acidemia.
Pediatric neurology 2008;39(5):325-9.
2008: shuchien huang; En-Ting Wu; Shuenn-Nan Chiu; Wuh-Liang Hwu; Mei-Hwan Wu; Shoei-Shen Wang
Mitral annuloplasty in an infant with Barth syndrome and severe mitral insufficiency: first case report and determination of annular diameter.
The Journal of thoracic and cardiovascular surgery 2008;136(4):1095-7.
2008: Huey-Ling Chen; Renxue Wang; Hui-Ling Chen; Wuh-Liang Hwu; Yung-Ming Jeng; Mei-Hwei Chang; Victor Ling
Bone marrow transplantation results in donor-derived hepatocytes in an animal model of inherited cholestatic liver disease.
Journal of biomedical science 2008;15(5):615-22.
2008: Shi-Bing Wang; Wen-Chin Weng; Ni-Chung Lee; Wuh-Liang Hwu; Pi-Chuan Fan; Wang-Tso Lee
Mutation of mitochondrial DNA G13513A presenting with Leigh syndrome, Wolff-Parkinson-White syndrome and cardiomyopathy.
Pediatrics and neonatology 2008;49(4):145-9.
2008: Hung-Wen Chen; Huey-Ling Chen; Yen-Hsuan Ni; Ni-Chung Lee; Yin-Hsiu Chien; Wuh-Liang Hwu; Yuan-Te Huang; Pao-Chin Chiu; Mei-Hwei Chang
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency.
Journal of pediatric gastroenterology and nutrition 2008;47(2):187-92.
2008: Wei-De Lin; Shuan-Pei Lin; Chung-Hsing Wang; Wuh-Liang Hwu; Chih-Kuang Chuang; Shio-Jean Lin; Yuhsin Tsai; Chih-Ping Chen; Fuu-Jen Tsai
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Clinica chimica acta; international journal of clinical chemistry 2008;394(1-2):89-93.
2008: Ting-Yu Yen; Wuh-Liang Hwu; Yin-Hsiu Chien; Mei-Hwan Wu; Ming-Tai Lin; Lon-Yen Tsao; Wu-Shiun Hsieh; Ni-Chung Lee
Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.
European journal of pediatrics 2008;167(8):941-4.
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: 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: Wei-De Lin; Wuh-Liang Hwu; Chung-Hsing Wang; Chih-Ping Chen; Fuu-Jen Tsai
Gene symbol: GCDH. Disease: Glutaricacidaemia I.
Human genetics 2008;123(5):551-2.
2008: L Wan; C-C Lee; C-M Hsu; Wuh-Liang Hwu; C-C Yang; C-H Tsai; Fuu-Jen Tsai
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Journal of neurology 2008;255(6):831-8.
2008: Ching-Chia Wang; Wuh-Liang Hwu; Kai-Hsin Lin
Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation.
World journal of pediatrics : WJP 2008;4(2):152-4.
2008: Po-Kai Huang; Chin-Chia Wang; Shuenn-Nan Chiu; En-Ting Wu; Yin-Hsiu Chien; Wuh-Liang Hwu; Jou-Kou Wang; Mei-Hwan Wu
Torsade de pointes ventricular tachycardia during elective intubation in a patient with Pompe disease.
Paediatric anaesthesia 2008;18(4):346-8.
2008: Yu-Wei Chiou; Wuh-Liang Hwu; Yu-May Lee
Hsp27 decreases inclusion body formation from mutated GTP-cyclohydrolase I protein.
Biochimica et biophysica acta 2008;1782(3):169-79.
2008: Wei-De Lin; Wuh-Liang Hwu; Su-Chiang Liu; Fuu-Jen Tsai
Gene symbol: GLA. Disease: Fabry disease.
Human genetics 2008;123(1):107.
2008: Chin-Tung Hsieh; Wuh-Liang Hwu; Yuan-Te Huang; Ai-Chu Huang; Shiao-Fang Wang; Min-Huei Hu; Yin-Hsiu Chien
Early detection of glutaric aciduria type I by newborn screening in Taiwan.
Journal of the Formosan Medical Association = Taiwan yi zhi 2008;107(2):139-44.
2008: Yin-Hsiu Chien; Ni-Chung Lee; Shu-Tzu Wu; Jane-Jane Liou; Hsiu-Chen Chen; Wuh-Liang Hwu
Changes in incidence and sex ratio of glucose-6-phosphate dehydrogenase deficiency by population drift in Taiwan.
The Southeast Asian journal of tropical medicine and public health 2008;39(1):154-61.
2007: Yin-Hsiu Chien; Wuh-Liang Hwu; Bor-Luen Chiang
The genetics of atopic dermatitis.
Clinical reviews in allergy & immunology 2007;33(3):178-90.
2007: Alex R Kemper; Wuh-Liang Hwu; Puryear Michele; Priya S Kishnani
Newborn screening for Pompe disease: synthesis of the evidence and development of screening recommendations.
Pediatrics 2007;120(5):e1327-34.
2007: Wuh-Liang Hwu; Yin-Hsiu Chien; Nelson Tang; L-K Law; Ching-Yuang Lin; Ni-Chung Lee
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
Journal of inherited metabolic disease 2007;30(5):816.
2007: Yin-Hsiu Chien; Ni-Chung Lee; Li-Kai Tsai; A-C Huang; Shinn-Forng Peng; Shu-Jen Chen; Wuh-Liang Hwu
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
Journal of inherited metabolic disease 2007;30(5):826.
2007: Yin-Hsiu Chien; Wuh-Liang Hwu
A review of treatment of Pompe disease in infants.
Biologics : targets & therapy 2007;1(3):195-201.
2007: Wei-De Lin; Wuh-Liang Hwu; Su-Chiang Liu; Chih-Ping Chen; Fuu-Jen Tsai
Human gene mutations. Gene symbol: GLA. Disease: Fabry disease.
Human genetics 2007;122(2):212.
2007: Chin-Hsien Lin; Wuh-Liang Hwu; Shu-Chuan Chiang; Chun-Hwei Tai; Ruey-Meei Wu
Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(4):434-8.
2007: Ching-Chia Wang; Wuh-Liang Hwu; En-Ting Wu; Frank Lu; Jou-Kou Wang; Mei-Hwan Wu
Outcome of pulmonary and aortic stenosis in Williams-Beuren syndrome in an Asian cohort.
Acta paediatrica (Oslo, Norway : 1992) 2007;96(6):906-9.
2007: Ching-Chia Wang; Yung-Wei Chen; En-Ting Wu; Yin-Hsiu Chien; Wuh-Liang Hwu; Wen-Je Ko; shuchien huang
Identification and management of cardiac perforation from a double lumen catheter in an infant.
Paediatric anaesthesia 2007;17(5):500-1.
2007: Chien-Hao Huang; Yih-Yuan Chang; Chung-Hsiung Chen; Yen-Shi Kuo; Wuh-Liang Hwu; Tommy Gerdes; Tsang-Ming Ko
Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification.
Genetics in medicine : official journal of the American College of Medical Genetics 2007;9(4):241-8.
2007: Shuo-Yu Wang; Yi-Ching Tung; Wen-Yu Tsai; Yin-Hsiu Chien; Jing-Sheng Lee; Wuh-Liang Hwu
Slipped capital femoral epiphysis as a complication of growth hormone therapy.
Journal of the Formosan Medical Association = Taiwan yi zhi 2007;106(2 Suppl):S46-50.
2006: Hsiang-Po Huang; Kai-Lin Chu; Yin-Hsiu Chien; Ming-Lee Wei; Shu-Tzu Wu; Shiao-Fang Wang; Wuh-Liang Hwu
Tandem mass neonatal screening in Taiwan--report from one center.
Journal of the Formosan Medical Association = Taiwan yi zhi 2006;105(11):882-6.
2006: Li-Kai Tsai; Ming-Shiun Tsai; Tzer-Bin Lin; Wuh-Liang Hwu; Hung Li
Establishing a standardized therapeutic testing protocol for spinal muscular atrophy.
Neurobiology of disease 2006;24(2):286-95.
2006: Ching-Wei Tsai; Chih-Chao Yang; Huey-Ling Chen; Wuh-Liang Hwu; Mu-Zon Wu; Kao-Lang Liu; Ming-Shiang Wu
Homozygous SLC25A13 mutation in a Taiwanese patient with adult-onset citrullinemia complicated with steatosis and hepatocellular carcinoma.
Journal of the Formosan Medical Association = Taiwan yi zhi 2006;105(10):852-6.
2006: Yin-Hsiu Chien; Ni-Chung Lee; Shinn-Forng Peng; Wuh-Liang Hwu
Brain development in infantile-onset Pompe disease treated by enzyme replacement therapy.
Pediatric research 2006;60(3):349-52.
2006: Ni-Chung Lee; Yin-Hsiu Chien; Keiko Kobayashi; Takeyori Saheki; Huey-Ling Chen; Pao-Chin Chiu; Yen-Hsuan Ni; Mei-Hwei Chang; Wuh-Liang Hwu
Time course of acylcarnitine elevation in neonatal intrahepatic cholestasis caused by citrin deficiency.
Journal of inherited metabolic disease 2006;29(4):551-5.
2006: Priya S Kishnani; Wuh-Liang Hwu; Hanna Mandel; Marc Nicolino; Florence H Yong; Deyanira Corzo
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
The Journal of pediatrics 2006;148(5):671-676.
2006: Jiun-Nan Yeh; Yung-Ming Jeng; Huey-Lin Chen; Yen-Hsuan Ni; Wuh-Liang Hwu; Mei-Hwei Chang
Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants.
The Journal of pediatrics 2006;148(5):642-6.
2006: Lei Wan; Chin-Moo Hsu; Chang-Hai Tsai; Cheng-Chun Lee; Wuh-Liang Hwu; Fuu-Jen Tsai
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations.
Blood cells, molecules & diseases 2006;36(3):422-5.
2005: Li-Kai Tsai; Ming-Shiun Tsai; Song-Kun Shyue; Wuh-Liang Hwu; Hung Li
Adenoviral interneuronal transportation after retrograde gene transfer in mice.
Brain research. Molecular brain research 2005;142(2):151-5.
2005: Hsiang-Po Huang; Yin-Hsiu Chien; Li-Min Huang; Yen-Hsuan Ni; Mei-Hwei Chang; Ming-Chih Ho; Po-Huang Lee; Wuh-Liang Hwu
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism.
Journal of the Formosan Medical Association = Taiwan yi zhi 2005;104(9):623-9.
2005: Chun-An Chen; Nelson Tang; Yin-Hsiu Chien; Wei-Min Zhang; Jou-Kou Wang; Wuh-Liang Hwu
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation.
BMC medical genetics 2005;6():25.
2005: Yin-Hsiu Chien; Shu-Chuan Chiang; Aichu Huang; Wuh-Liang Hwu
Spectrum of hypermethioninemia in neonatal screening.
Early human development 2005;81(6):529-33.
2005: Chih-Ming Wei; Huey-Ling Chen; Ping-Ing Lee; Chong-Ming Chen; Chun-Yi Ma; Wuh-Liang Hwu
Reye's syndrome developing in an infant on treatment of Kawasaki syndrome.
Journal of paediatrics and child health 2005;41(5-6):303-4.
2005: C-C Yang; Y-N Su; P-C Chiou; M J Fietz; C-L Yu; Wuh-Liang Hwu; M-J Lee
Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C.
Journal of neurology, neurosurgery, and psychiatry 2005;76(4):592-5.
2005: Ching-Cherng Tzeng; Li-Ping Tsai; Wuh-Liang Hwu; Shio-Jean Lin; Mei-Chyn Chao; Yuh-Jyh Jong; Shao-Yin Chu; Wei-Chen Chao; Chin-Li Lu
Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.
American journal of medical genetics. Part A 2005;133A(1):37-43.
2005: Tsung-Jen Wang; Muh-Shy Chen; Yung-Feng Shih; Wuh-Liang Hwu; Ming-Yang Lai
Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up.
American journal of ophthalmology 2005;139(2):359-62.
2005: Long-Kuang Lin; Yin-Hsiu Chien; Jer-Yuarn Wu; Ai-Hou Wang; Shu-Chuan Chiang; Wuh-Liang Hwu
KIF21A gene c.2860C>T mutation in congenital fibrosis of extraocular muscles type 1 and 3.
Molecular vision 2005;11():245-8.
2005: Ruey-Meei Wu; Rebecca Bounds; Sarah J Lincoln; Mary Hulihan; Chin-Hsien Lin; Wuh-Liang Hwu; Judy Chen; Katrina Gwinn-Hardy; Matthew J Farrer
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort.
Archives of neurology 2005;62(1):82-7.
2004: Yin-Hsiu Chien; Shu-Chuan Chiang; Aichu Huang; Jing-Meei Lin; Yen-Nan Chiu; Shi-Ping Chou; Tso-Ren Wang; Wuh-Liang Hwu
Phenylalanine hydroxylase deficiency: intelligence of patients after early dietary treatment.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2004;45(6):320-3.
2004: Yin-Hsiu Chien; Wuh-Liang Hwu; Tadashi Ariga
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
Human genetics 2004;115(6):534.
2004: Yin-Hsiu Chien; Wuh-Liang Hwu; Tadashi Ariga
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
Human genetics 2004;115(6):532.
2004: Yin-Hsiu Chien; Wuh-Liang Hwu; Tadashi Ariga
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
Human genetics 2004;115(6):532.
2004: Yin-Hsiu Chien; Wuh-Liang Hwu
Gene symbol: WAS. Disease: Wiskott-Aldrich syndrome.
Human genetics 2004;115(6):531.
2004: Sheng-Ming Wu; Wen-Chih Kuo; Wuh-Liang Hwu; Kuo-Yuan Hwa; Roberto Mantovani; Yu-May Lee
RNF4 is a coactivator for nuclear factor Y on GTP cyclohydrolase I proximal promoter.
Molecular pharmacology 2004;66(5):1317-24.
2004: Steven Shinn-Forng Peng; Wen-Yih I Tseng; Yin-Hsiu Chien; Wuh-Liang Hwu; Hon-Man Liu
Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment.
AJNR. American journal of neuroradiology 2004;25(9):1569-74.
2004: Yin-Hsiu Chien; Wuh-Liang Hwu; Tadashi Ariga; Kuei-Wen Chang; Yao-Hsu Yang; Kai-Hsin Lin; Bor-Luen Chiang
Molecular diagnosis of Wiskott-Aldrich syndrome in Taiwan.
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi 2004;37(5):276-81.
2004: Jao-Shwann Liang; Wang-Tso Lee; Wuh-Liang Hwu; Steven Shinn-Forng Peng; Li-Wen Chu; Pen-Jung Wang; Yu-Zen Shen
Adrenoleukodystrophy: clinical analysis of 9 Taiwanese children.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2004;45(5):272-7.
2004: Kai-Lin Chu; Yin-Hsiu Chien; Chen-En Tsai; Hudson H Freeze; Erik Eklund; Wuh-Liang Hwu
Carbohydrate deficient glycoprotein syndrome type Ia.
Journal of the Formosan Medical Association = Taiwan yi zhi 2004;103(9):721-3.
2004: Wuh-Liang Hwu; Mei-Yi Lu; Kuo-Yuan Hwa; Shu-Wen Fan; Yu-May Lee
Molecular chaperones affect GTP cyclohydrolase I mutations in dopa-responsive dystonia.
Annals of neurology 2004;55(6):875-8.
2004: Jiahn-Te Lee; Hung-Chieh Chou; Po-Nien Tsao; Wu-Shiun Hsieh; Wuh-Liang Hwu
Trisomy 18 in monozygotic twins with discordant phenotypes.
Journal of the Formosan Medical Association = Taiwan yi zhi 2004;103(4):314-6.
2004: Wuh-Liang Hwu; Pao-Lin Kuo; Yeh-Ting Hung; Yin-Hsiu Chien; Shao-Yin Chu
Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: report of one case.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2004;45(2):97-9.
2004: Yuan-Te Huang; Shu-Chuan Chiang; Ching-Cherng Tzeng; Ching-Hsuan Liu; Yin-Hsiu Chien; Wuh-Liang Hwu
A step-wise diagnosis of fragile X syndrome in Taiwan.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2004;45(2):69-72.
2004: Chih-Ping Chen; Shuan-Pei Lin; Chin-Yuan Tzen; Fuu-Jen Tsai; Wuh-Liang Hwu; Wayseen Wang
Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II.
Prenatal diagnosis 2004;24(3):231-2.
2004: Wuh-Liang Hwu; Yin-Hsiu Chien; Chia-Chi Hsu
Distal arthrogryposis in two sisters born to different fathers.
American journal of medical genetics. Part A 2004;125A(1):100-1.
2004: Yin-Hsiu Chien; Shu-Chuan Chiang; Aichu Huang; Shi-Ping Chou; Szu-San Tseng; Yuan-Te Huang; Wuh-Liang Hwu
Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.
Human mutation 2004;23(2):206.
2004: Yin-Hsiu Chien; Chia-Chi Hsu; Aichu Huang; Shi-Ping Chou; Frank Lu; Wang-Tso Lee; Wuh-Liang Hwu
Poor outcome for neonatal-type nonketotic hyperglycinemia treated with high-dose sodium benzoate and dextromethorphan.
Journal of child neurology 2004;19(1):39-42.
2003: Yuan-Te Huang; Yin--Hsiu Chien; Hui-Ying Yeh; Shio-Jean Lin; Frank Lu; Shi-Ping Chou; Jing-Meei Lin; Shu-Chuan Chiang; Wuh-Liang Hwu
Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese.
Journal of the Formosan Medical Association = Taiwan yi zhi 2003;102(12):851-6.
2003: Keiko Kobayashi; Yao Bang Lu; Meng Xian Li; Ikumi Nishi; Kwang-Jen Hsiao; Kyuchul Choeh; Yanling Yang; Wuh-Liang Hwu; Juergen K V Reichardt; Ferdinando Palmieri; Yoshiyuki Okano; Takeyori Saheki
Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations.
Molecular genetics and metabolism 2003;80(3):356-9.
2003: Wuh-Liang Hwu; Yuan-Te Huang; Yin-Hsiu Chien; Hui-Ying Yeh; Frank Lu; Shi-Ping Chou; Jing-Meei Lin; Shu-Chuan Chiang
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.
Human genetics 2003;113(4):367.
2003: Wuh-Liang Hwu; Yuan-Te Huang; Yin-Hsiu Chien; Hui-Ying Yeh; Frank Lu; Shi-Ping Chou; Jing-Meei Lin; Shu-Chuan Chiang
Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.
Human genetics 2003;113(4):365.
2003: Wuh-Liang Hwu; Hui-Ying Yeh; Shu-Wen Fang; Hao-Sen Chiang; Yu-Wei Chiou; Yu-May Lee
Regulation of GTP cyclohydrolase I by alternative splicing in mononuclear cells.
Biochemical and biophysical research communications 2003;306(4):937-42.
2003: I-Jong Wang; Shao-Yin Chu; Chuan-Yuh Wang; Pen-Jung Wang; Wuh-Liang Hwu
Maple syrup urine disease presenting with neonatal status epilepticus: report of one case.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2003;44(4):246-8.
2003: Wuh-Liang Hwu; Yin-Hsiu Chien; Jao-Shwann Liang; Wang-Tso Lee; Pen-Jung Wang; Wen-Yu Tsai
Adrenoleukodystrophy initially diagnosed as idiopathic Addison's disease in two patients: the importance of early testing.
Journal of the Formosan Medical Association = Taiwan yi zhi 2003;102(7):510-3.
2003: Jui-Yu Hsui; Yin-Hsiu Chien; Shao-Yin Chu; Frank Lu; Huey-Ling Chen; Ming-Je Ho; Po-Huang Lee; Wuh-Liang Hwu
Living-related liver transplantation for methylmalonic acidemia: report of one case.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2003;44(3):171-3.
2003: Wuh-Liang Hwu; Chia-Li Yu
Debate in newborn screening for metabolic disorders in Taiwan--a voluntary screening? Mandatory screening? Or both?
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2003;44(3):125.
2003: Yin-Hsiu Chien; Yao-Hsu Yang; Wuh-Liang Hwu; Chen-Cheng Chou; Bor-Luen Chiang
Common variable immunodeficiency with hypoglycemia, Kikuchi lymphadenitis, and hemiparesis in two siblings.
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi 2003;36(1):65-8.
2003: C-C Yang; Li-Wen Lai; O Whitehair; Wuh-Liang Hwu; Shu-Chuan Chiang; Yeong-Hau H Lien
Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease.
Clinical genetics 2003;63(3):205-9.
2003: Wuh-Liang Hwu; Ai-Chu Huang; Jui-San Chen; Kwang-Jen Hsiao; Wen-Yu Tsai
Neonatal screening and monitoring system in Taiwan.
The Southeast Asian journal of tropical medicine and public health 2003;34 Suppl 3():91-3.
2002: Yin-Hsiu Chien; S Y Chu; C C Hsu; Wuh-Liang Hwu
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant.
Journal of inherited metabolic disease 2002;25(7):593-5.
2002: Shao-Yin Chu; Shu-Chuan Chiang; Yin-Hsiu Chien; Wuh-Liang Hwu
Screening of mitochondrial DNA mutations in subjects with non-syndromic familial hearing impairment in Taiwan.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2002;43(6):330-3.
2002: Shao-Yin Chu; Wen-Yu Tsai; Li-Hsin Chen; Ming-Lee Wei; Yin-Hsiu Chien; Wuh-Liang Hwu
Neonatal screening for congenital adrenal hyperplasia in Taiwan: a pilot study.
Journal of the Formosan Medical Association = Taiwan yi zhi 2002;101(10):691-4.
2002: Pei-Chun Chan; Hsien-Ching Chiu; Wuh-Liang Hwu
Spontaneous chylothorax in a case of cardio-facio-cutaneous syndrome.
Clinical dysmorphology 2002;11(4):297-8.
2002: Chia-Chi Hsu; Yin-Hsiu Chien; Ming-Yang Lai; Wuh-Liang Hwu
Enzyme replacement therapy with imiglucerase in Taiwanese patients with type I Gaucher disease.
Journal of the Formosan Medical Association = Taiwan yi zhi 2002;101(9):627-31.
2002: Yin-Hsiu Chien; Pao-Lin Kuo; Wuh-Liang Hwu
An infant with heart murmur and dysmorphic face.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2002;43(5):241-3.
2002: Yin-Hsiu Chien; Yao-Hsu Yang; Shao-Yin Chu; Wuh-Liang Hwu; Pao-Lin Kuo; Bor-Luen Chiang
DiGeorge sequence with hypogammaglobulinemia: a case report.
Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi 2002;35(3):187-90.
2002: Ruey-Meei Wu; Din-E Shan; Chen-Ming Sun; Ren-Shyan Liu; Wuh-Liang Hwu; Chun-Hwei Tai; Jennifer Hussey; Andrew West; Katrina Gwinn-Hardy; John Hardy; Judy Chen; Matthew J Farrer; Sarah J Lincoln
Clinical, 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations.
Movement disorders : official journal of the Movement Disorder Society 2002;17(4):670-5.
2002: Yin-Hsiu Chien; Shinn-Forng Peng; Tso-Ren Wang; Wuh-Liang Hwu
Cranial MR spectroscopy of tetrahydrobiopterin deficiency.
AJNR. American journal of neuroradiology 2002;23(6):1055-8.
2002: Yin-Hsiu Chien; Hung-Chieh Chou; Wuh-Liang Hwu
Cockayne syndrome in a family.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2002;43(1):46-9.
2001: Yin-Hsiu Chien; Shu-Chuan Chiang; Aichu Huang; Jing-Meei Lin; Yen-Nan Chiu; Shi-Ping Chou; S Y Chu; Tso-Ren Wang; Wuh-Liang Hwu
Treatment and outcome of Taiwanese patients with 6-pyruvoyltetrahydropterin synthase gene mutations.
Journal of inherited metabolic disease 2001;24(8):815-23.
2001: Ya-Fang Chen; Yhu-Chering Huang; Hon-Man Liu; Wuh-Liang Hwu
MRI in a case of adult-onset citrullinemia.
Neuroradiology 2001;43(10):845-7.
2001: Pen-Jung Wang; Wuh-Liang Hwu; Yu-Zen Shen
Epileptic seizures and electroencephalographic evolution in genetic leukodystrophies.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society 2001;18(1):25-32.
2000: Wuh-Liang Hwu; Yu-Wei Chiou; S Y Lai; Yu-May Lee
Dopa-responsive dystonia is induced by a dominant-negative mechanism.
Annals of neurology 2000;48(4):609-13.
2000: T Y Yang; Huey-Ling Chen; Yen-Hsuan Ni; Wuh-Liang Hwu; Mei-Hwei Chang
Hereditary fructose intolerance presenting as Reye's-like syndrome: report of one case.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2000;41(4):218-20.
2000: Pi-Feng Chang; SF Huang; Wuh-Liang Hwu; Jia-Woei Hou; Yen-Hsuan Ni; Mei-Hwei Chang
Metabolic disorders mimicking Reye's syndrome.
Journal of the Formosan Medical Association = Taiwan yi zhi 2000;99(4):295-9.
2000: P H Su; Jia-Woei Hou; Wuh-Liang Hwu; Mei-Hwan Wu; Jou-Kou Wang; Tso-Ren Wang
Congenital contractural arachnodactyly (Beals syndrome).
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2000;41(2):59-62.
2000: Wuh-Liang Hwu; Y Suzuki; X Yang; X Li; Shi-Ping Chou; K Narisawa; Wen-Yu Tsai
Late-onset holocarboxylase synthetase deficiency with homologous R508W mutation.
Journal of the Formosan Medical Association = Taiwan yi zhi 2000;99(2):174-7.
2000: Shu-Chuan Chiang; Y M Lee; Mei-Hwei Chang; Tso-Ren Wang; Tsang-Ming Ko; Wuh-Liang Hwu
Glucose-6-phosphatase gene mutations in Taiwan Chinese patients with glycogen storage disease type Ia.
Journal of human genetics 2000;45(4):197-9.
2000: Wuh-Liang Hwu; Shu-Chuan Chiang; M H Chang; Tso-Ren Wang
Carnitine transport defect presenting with hyperammonemia: report of one case.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2000;41(1):36-8.
1999: Wuh-Liang Hwu; Shu-Chuan Chiang; S F Huang; Mei-Hwei Chang; Wan-Hsin Wen; Tso-Ren Wang
Hypercalcaemia in glycogen storage disease type Ia: a case with R83H and 341delG mutations.
Journal of inherited metabolic disease 1999;22(8):937-8.
1999: C Lee; Fuu-Jen Tsai; Jer-Yuarn Wu; Ching-Tien Peng; Chang-Hai Tsai; Wuh-Liang Hwu; Tso-Ren Wang; D S Millington
3-hydroxy-3-methylglutaric aciduria presenting with Reye like syndrome: report of one case.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 1999;40(6):445-7.
1999: Wuh-Liang Hwu; P J Wang; Kwang-Jen Hsiao; T R Wang; Yu-Wei Chiou; Yu-May Lee
Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.
Human genetics 1999;105(3):226-30.
1999: Y S Hsu; Wuh-Liang Hwu; Shiu-Fen Huang; Meng-Yao Lu; Rong-Long Chen; Dong-Tsamn Lin; Steven Shinn-Forng Peng; Kai-Hsin Lin
Niemann-Pick disease type C (a cellular cholesterol lipidosis) treated by bone marrow transplantation.
Bone marrow transplantation 1999;24(1):103-7.
1999: Shu-Chuan Chiang; Y M Lee; Tso-Ren Wang; Wuh-Liang Hwu
Allele distribution at the FMR1 locus in the general Chinese population.
Clinical genetics 1999;55(5):352-5.
1999: Frank Lu; Pen-Jung Wang; Wuh-Liang Hwu; KI Tsou Yau; Tso-Ren Wang
Neonatal type of nonketotic hyperglycinemia.
Pediatric neurology 1999;20(4):295-300.
1999: Fuu-Jen Tsai; Chang-Hai Tsai; Ching-Tien Peng; SP Lin; Wuh-Liang Hwu; Tso-Ren Wang; Cheng-Chun Lee; Jer-Yuarn Wu
Molecular diagnosis of Apert syndrome in Chinese patients.
Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 1999;40(1):31-3.
1999: Tsang-Ming Ko; Wuh-Liang Hwu; Ying-Wu Lin; LH Tseng; Hsiao-Lin Hwa; Tso-Ren Wang; Sou-Ming Chuang
Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
Human mutation 1999;13(5):380-4.
1998: P H Su; Wuh-Liang Hwu; Shu-Chuan Chiang; P C Chiu; Shing-Jong Lin; S G Shu; Tso-Ren Wang
Mucopolysaccharidosis type II (Hunter's syndrome) in Taiwan.
Journal of the Formosan Medical Association = Taiwan yi zhi 1998;97(3):186-90.
1998: Fuu-Jen Tsai; Wuh-Liang Hwu; SP Lin; Jan-Gowth Chang; Tso-Ren Wang; Chang-Hai Tsai
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.
Human mutation 1998;Suppl 1():S18-9.
1997: Wuh-Liang Hwu; Tso-Ren Wang; Y M Lee
FMR1 enhancer is regulated by cAMP through a cAMP-responsive element.
DNA and cell biology 1997;16(4):449-53.
1996: Po-Nien Tsao; Ru-Jeng Teng; Wuh-Liang Hwu; KI Tsou Yau; Tso-Ren Wang
Camptomelic dysplasia: report of one case.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1996;37(5):381-3.
1996: S C Chuang; Wuh-Liang Hwu; C C Wu; Jia-Woei Hou; Tso-Ren Wang
Diagnosis of mucopolysaccharidosis type IIIB.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1996;37(5):320-3.
1996: Chang-Hai Tsai; Fuu-Jen Tsai; Wuh-Liang Hwu; Tso-Ren Wang; S G Shu; S C Liu
Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of an X-Y homologous region.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1996;37(3):185-7.
1996: S Y Tsai; Y M Jeng; Wuh-Liang Hwu; Yen-Hsuan Ni; Mei-Hwei Chang; Tso-Ren Wang
Hepatoblastoma in an infant with Beckwith-Wiedemann Syndrome.
Journal of the Formosan Medical Association = Taiwan yi zhi 1996;95(2):180-3.
1996: Wuh-Liang Hwu; Li-Ping Tsai; W C Wang; S C Chuang; Pen-Jung Wang; Tso-Ren Wang
Arylsulfatase A pseudodeficiency in Chinese.
Human genetics 1996;97(2):148-9.
1996: Li-Ping Tsai; W C Sue; Wuh-Liang Hwu; K H Lin; Tso-Ren Wang
Oculomotor apraxia in a case of Gaucher's disease with homozygous T1448C mutation.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1996;37(1):52-5.
1996: Tso-Ren Wang; W P Wang; Wuh-Liang Hwu; M L Lee
Fibroblast growth factor receptor 3 (FGFR3) gene G1138A mutation in Chinese patients with achondroplasia.
Human mutation 1996;8(2):178-9.
1995: Fuu-Jen Tsai; H W Chen; Ching-Tien Peng; Chang-Hai Tsai; Wuh-Liang Hwu; Tso-Ren Wang; S C Liu
Molecular diagnosis of Gaucher disease type II.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1995;36(5):346-50.
1995: Wuh-Liang Hwu; S C Chuang; Li-Ping Tsai; M H Chang; S M Chuang; Tso-Ren Wang
Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia.
Human molecular genetics 1995;4(6):1095-6.
1995: Fuu-Jen Tsai; Chang-Hai Tsai; Wuh-Liang Hwu; Tso-Ren Wang; S G Shu; S C Liu
Sex determination in infants with ambiguous genitalia using the polymerase chain reaction of SRY gene.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1995;36(3):184-6.
1994: Wuh-Liang Hwu; S C Chuang; W C Wang; Tso-Ren Wang
Diagnosis of I-cell disease.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1994;35(6):508-13.
1994: Pen-Jung Wang; Y M Ko; Chainllie Young; Wuh-Liang Hwu; Yu-Zen Shen
Hereditary progressive dystonia with marked diurnal fluctuation (Segawa syndrome) in Taiwan.
Brain & development 1994;16(2):126-31.
1994: Wuh-Liang Hwu; S C Chuang; W C Wang; Tso-Ren Wang
Fucosidosis in a Chinese girl.
Journal of inherited metabolic disease 1994;17(2):255.
1993: Wuh-Liang Hwu; Y M Lee; Sheng-Chung Lee; Tso-Ren Wang
In vitro DNA methylation inhibits FMR-1 promoter.
Biochemical and biophysical research communications 1993;193(1):324-9.
1993: Tso-Ren Wang; Wuh-Liang Hwu; Jia-Woei Hou; H M Tsai; C H Liu
Y-specific polymerase chain reaction for the interpretation of a chromosome marker.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1993;34(2):113-7.
1993: Tso-Ren Wang; Wuh-Liang Hwu; Jia-Woei Hou; Shi-Ping Chou; C H Liu
Fragile-X mental retardation--a combination of cytogenetic and molecular approaches, with greater emphasis on DNA analysis.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1993;34(2):105-12.
1993: Jia-Woei Hou; Wuh-Liang Hwu; Wen-Yu Tsai; Jing-Shang Lee; Tso-Ren Wang; Hung-Chi Lue
Cardiovascular disorders in Turner's syndrome and its correlation to karyotype.
Journal of the Formosan Medical Association = Taiwan yi zhi 1993;92(2):188-9.
1992: Wuh-Liang Hwu; Rong-Long Chen; K H Lin; Tso-Ren Wang
DNA fingerprinting in the Chinese with an oligonucleotide probe (GTG)5.
Journal of the Formosan Medical Association = Taiwan yi zhi 1992;91(9):839-43.
1992: Wuh-Liang Hwu; Shi-Ping Chou; Tso-Ren Wang
Measurement of urinary orotic acid by gas chromatography-mass spectrometry.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1992;33(3):176-80.
1992: Ping-Ing Lee; Mei-Hwei Chang; Wuh-Liang Hwu; C L Kao; C Y Lee
Transfusion-acquired cytomegalovirus infection in children in a hyperendemic area.
Journal of medical virology 1992;36(1):49-53.
1991: Wuh-Liang Hwu; Tso-Ren Wang
Quantification of arylsulfatase B activity and diagnosis of Maroteaux-Lamy syndrome.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1991;32(5):280-5.
1991: Y C Lai; Wuh-Liang Hwu; Tso-Ren Wang; Kue-Hsiung Hsieh; C Y Lee; Yiu-Wah Li
Crisis in Gaucher disease simulating osteomyelitis: report of one case.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1991;32(4):244-50.
1991: Wuh-Liang Hwu; Tso-Ren Wang
A clinical observation of achondroplasia.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1991;32(4):208-13.
1991: Fuu-Jen Tsai; Ching-Tien Peng; Chang-Hai Tsai; Wuh-Liang Hwu; Tso-Ren Wang
Niemann-Pick disease type B with ocular involvement: report of a case.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1991;32(3):177-82.
1991: Wuh-Liang Hwu; Wen-Yu Tsai; J S Lee; Pen-Jung Wang; Tso-Ren Wang
Prader-Willi syndrome with chromosome 15 interstitial deletion: report of one case.
Zhonghua Minguo xiao er ke yi xue hui za zhi [Journal]. Zhonghua Minguo xiao er ke yi xue hui 1991;32(2):105-11.
1989: Tso-Ren Wang; Wuh-Liang Hwu
Alkaptonuria in a Chinese baby.
Journal of inherited metabolic disease 1989;12(3):327.