| 178. |
Hsiao KJ, Chiang SH. Interlaboratory quality
survey for maternal blood screening of Down syndrome in Taiwan.
2nd Asian Congress on Down Syndrome Screening, Taipei, 1997;36. [
Abstract ] |
|
|
| 179. |
Hsiao KJ. Trends in diagnosing inherited
metabolic disease. J Paediatr Child Health, 1997;33 (Suppl.1):S14.
[ Abstract
] |
|
|
| 180. |
Hsiao KJ, Chiang SH. The organization of
the neonatal screening program in Taiwan. J Paediatr Child Health
1997;33(Suppl.1):S27. [ Abstract
] |
|
|
| 181. |
Liu TT, Lu SF, Hsiao KJ. Genonic structure
of the human 6-pyruvoyl-tetrahydropterin synthase gene. 12th
Jonint Annual Conference of Biomedical Sciences , Taipei, 1997;260.
[ Abstract
] |
|
|
| 182. |
Lee YR, Chen CH, Hsiao KJ. Systematic search
for variation in the human catechol-O-methyltransferase gene and Association
study with schizophrenia. 12th Jonint Annual Conference of Biomedical
Sciences, Taipei, 1997;261. [ Abstract
] |
|
|
| 183. |
Hsiao KJ, Liu TT, Lu SF, Wu SJ, Wu KF, Chiang
SH. Mutation characteriation of Chinese phenylketonuria caused
by 6-pyruvoyl tetrahydropterin synthase deficiency. 7th Intl.
Congreess of Inborn Errors of Metabolism, Vienna, 1997;45. [
Abstract ] |
|
|
| 184. |
Shiue HS, Chang CL, Chang PL, Wang SS, Lin AP, Wu JS,
Hsiao KJ. The pratical employment's experience in Internet
for Chinese medical information. Medical Informatics Symposium
in Taiwan 1997;S2B-4. (in Chinese) [ Abstract
] |
|
|
| 185. |
Chen WY, Chen CH, Tsao T, Hsiao KJ. Molecular
Genetic Study of A Family with Nephrogenic Diabetes Insipidus.
13th Joint Annual Conference of Biomedical Sciences, Taipei, 1998;P48.
[ Abstract
] |
|
|
| 186. |
Chiang PH, Hsiao KJ, Chuo YT, Liu DM. Integration
and Coordination of Biomedical Information: Implementation of Health
Research Information Network (HINT). Chin Med J(Taipei)1998;6(Suppl.):82.
(in Chinese) [ Abstract
] |
|
|
| 187. |
Hsiao KJ, Liu TT, Chang YH, Chiou JY. A
gly170ser missense mutation and reduced RNA expression of dihydropteridine
reductase gene detected in Chinese hyperphenylalaninemia. 5th
European-Asian Workshop on Inborn Errors of metabolism, Warsaw, 1998;32.
[ Abstract
] |
|
|
| 188. |
Hsiao KJ, Chiang SH, Wu SJ, Wu KF. G6PD
deficiency screening in Taiwan. 3rd Asia-Pacific Regional Meeting
of the Intl Soc for Neonatal Screening, Chiangmai, 1998; 79. [
Abstract ] |
|
|
| 189. |
Wu SJ, Qiu DF, Hsiao KJ. Application of
electrospray tandem mass spectrometry in screening inherited disorders
of amino acid metabolism. 14th Joint Annual Conference of Biomedical
Sciences, Taipei, 1999; P35. [ Abstract
] |
|
|
| 190. |
Chang YS, Liu TT, Chiang SH, Wu KF, Hsiao KJ.
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase
deficiency in Chinese. 14th Joint Annual Conference of Biomedical
Sciences, Taipei, 1999; P145. [ Abstract
] |
|
|
| 191. |
Hsiao KJ, Chang YH, Liu TT, Liu MY, Chiang SH,
Wu KF. Two novel mutations, 226C>TAND IVS3+1G>A, found
in Chinese hyperphenylalaninemia caused by 6-pyruvoyl-tetrahydropterin
synthase deficiency. 4th Meeting of the Intl Soc for Neonatal
Screening, Stockholm, 1999;P31. [ Abstract
] |
|
|
| 192. |
Hsiao KJ, Wu SJ, Qiu DF. Prenatal diagnosis
of organic acid metabolic disorders with amniotic fluid by electrospray
tandem mass spectrometry. Clin Chem Lab Med 1999;37(suppl):
S419. [ Abstract
] |
|
|
| 193. |
Hsiao KJ, Liu TT, Chang YH, Liu MY, Chiang SH,
Wu KF. Founder effect of 155A>G, 259C>T and 286G>A
mutations in Chinese 6-pyruvoyl-tetrahydropterin synthase deficient
hyperphenylalaninemia. 6th Asian-European Workshop on Inborn
Errors of Metabolism, Korea, 1999;27-8. [ Abstract
] |
|
|
| 194. |
Lee SF, Liu TT, Wu SJ, Hsiao KJ. Mutation
analysis of mut gene in Chinese methylmalonic acidemia caused by methylmalonyl
CoA mutase deficiency. 15th Joint Annual Conference of Biomedical
Sciences, Taipei, 2000; P7. [ Abstract
] |
|
|
| 195. |
Liu MY, Chen CH, Wu SJ, Hsieh YT, Liu TT, Hsiao KJ.
Identification of three novel α-galactosidase a mutations (274G>T,
781G>A, and exon 2 deletion) in patients with fabry disease.
15th Joint Annual Conference of Biomedical Sciences, Taipei, 2000;
P179. [ Abstract
] |
|
|
| 196. |
Liu HL, Liu TT, Wu SJ, Toung LC, Qu XB, Hsiao KJ.
Identification of a novel glucose-6-phosphate dehydrogenase (G6PD)
551C>T mutation in a Chinese family with G6PD deficiency.
15th Joint Annual Conference of Biomedical Sciences, Taipei, 2000;
P180. [ Abstract
] |
|
|
| 197. |
Chen CY, Su JS, Chang HM, Chao KM, Hsiao KJ,
Tsai SF. The complete genome sequence of the human ADH gene
family. Human Genome Meeting 2000, Vancouver, 2000;85. [
Abstract ] |
|
|
| 198. |
Hsiao KJ, Chen CY, Chang HM, Wu KM, Chiang SH,
Chung MY, Yang UC, Chou CK, Tsai SF. Exploring chromosome 4q22-24
hepatocellular carcinoma tumor suppressor gene region by genome sequencing.
Human Genome Meeting 2000, Vancouver, 2000;87. [ Abstract
] |
|
|
| 199. |
Liu TT, Chang YH, Chiu YH, Chuang SH, Chen CY, Tsai
SF, Hsiao KJ. Isolation and the complete sequence of
the human 6-pyruvoyl-tetrahydropterin synthase gene containing BAC
clone 321H15. Human Genome Meeting 2000, Vancouver, 2000;88.
[ Abstract
] |
|
|
| 200. |
Tsai SF,Chang HM, Chen CY, Yeh SH, Lin CH, Yang UC,
Chou CK, Hsiao KJ. Exploring HCC tumor suppressor gene
regions by genome sequencing. Chinese Congress of Clinical Chemistry
& Laboratory Medicine 2000, Hong Kong, 2000;45. [
Abstract ] |
|
|
| 201. |
Liu TT, Hsiao KJ. Tetrahydrobiopterin deficient
hyperphenylalaninemia in Chinese. Chinese Congress of Clinical
Chemistry & Laboratory Medicine 2000, Hong Kong, 2000;48. [
Abstract ] |
|
|
| 202. |
Okano Y, Asada M, Imamura T, Ohtake A, Murayama K, Choeh K, Hsiao
KJ, Reichardt JKV, Yamano T. Molecular characterization
of galactokinase deficiency in Japanese. J Inherit Metab Dis
2000;23(Suppl.1):159. [ Abstract
] |
|
|
| 203. |
Yu WM, Liu TT, Chang M, Zhou ZS, Shen M, Hsiao KJ.
The study of tetrahydrobiopterin deficiency in northern Chinese with
hyperphenylalaninemia. J Inherit Metab Dis 2000;23(Suppl.1):43.
[ Abstract
] |
|
|
| 204. |
Chen CH, Tsai MT, Hung CC, Tsai CY, Liu MY, Chen YH, Hsiao KJ.
Systematic search of molecular variants of the human synapsin 3 gene
and association study with schizophrenia. Am J Hum Genet 2000;67(supp2):348.
[ Abstract
] |
|
|
| 205. |
Qi Y, Liu TT, Chiang SH, Pan H, Zhang Y, Wang CX, Lu JJ, Bao XH,
Wei YH, Hsiao KJ, Wu XR. Five de novo polymorphisms found
in Chinese mitochondrial genome. 1st Symposium of the Both Side
of Taiwan Strait on Mitochondrial Medicine, Beijing, 2000;23-26. [
Abstract ] |
|
|
| 206. |
Lin CH, Liu MY, Chiang SH, Hsiao KJ. Common 1034>A
mutation of galactose-1-phosphate uridyl transferase (GALT) in Chinese
GALT deficiency patients. 16th Joint Annual Conference of Biomedical
Sciences, Taipei, 2001; P417. [ Abstract
] |
|
|
| 207. |
Yen PF, Liu MY, Liu TT, Hsiao KJ. The complete genomic
sequence of human DHPR gene and the mutation 697A>C detected in
Chinese hyperphenylalaninemia (HPA). 16th Joint Annual Conference
of Biomedical Sciences, Taipei, 2001; P417. [ Abstract
] |
|
|
| 208. |
Chiu YH, Liu TT, Liu MY, Hsiao KJ. Molecular characterization
of F40L mutation in Chinese 6-pyruvoyl-tetrahydropterin synthase deficient
hyperphenylalaninemia. 16th Joint Annual Conference of Biomedical
Sciences, Taipei, 2001; P417. [ Abstract
] |
|
|
| 209. |
Chiang SH, Wu KF, Hsiao KJ. Quality Assurance Program
for Neonatal Screening of G6PD Deficiency. 4th Asia Pacific
Regional Meeting of the International Society for Neonatal Screening,
Manila, 2001; PL-32. [ Abstract
] |
|
|
| 210. |
Liu TT, Chiang SH, Wu SJ, Hsiao KJ. Screening differential
diagnosis and prenatal disgnosis of hyperphenylalaninemia. 17th
Joint Annual Conference of Biomedical Sciences, Taipei, 2002; S15.
[ Abstract
] |
|
|
| 211. |
Liu YN, Liu TT, Wu SJ, Hsiao KJ. Mutation analysis
of PCCB gene in Chinese patients with propionic acidemia. 17th
Joint Annual Conference of Biomedical Sciences, Taipei, 2002; P366.
[ Abstract
] |
|
|
| 212. |
Lin CH, Liu TT, Hsiao KJ. Assessment of electronic
data collection from PubMed for the establishment of Chinese Gene
Variation Database (CGVdb).
HGM2002, Shanghai, 2002;320. [ Abstract
] |
|
|
| 213. |
Liu TT, Yen PF, Lin CH, Chiang SH, Chen CY, Tsai SF, Hsiao KJ.
Isolation and the complete sequence of the human BAC clone 395N09:
The complete genomic sequence of dihydropteridine reductase gene and
its mutation in Chinese hyperphenylalaninemia. HGM2002, Shanghai,
2002;321. [ Abstract
] |
|
|
| 214. |
Liu MY, Chen CH, Wu SJ, Hsieh YT, Liu TT, Hsiao KJ.
Identification and characterization of alpha-galactosidase a mutations
in Chinese patients with Fabry disease. J. Inherit Metab Dis
2002;25(Suppl.1):115. [ Abstract
] |
|
|
| 215. |
Liu TT, Lin CH, Liu MY, Chern SR, Chiang SH, Hsiao KJ.
Two novel mutations, 1034C>A and IVS9+1G>T, of galactose-1-phosphate
uridyltransferase (GALT) gene identified in Chinese galactosemia.
8th Annual Asia-European Workshop of Inborn Error of Metabolism (AEWIEM),
Vilnius. Laboratorine Medicina 2002;(Suppl):S62. [
Abstract ] |
|
|
| 216. |
Kobayashi K, Okano Y, Nishi I, Lu YB, Choeh K, Hsiao KJ,
Hwu WL, Yang YL, Saheki T. Frequency of heterozygote with the
mutated SLC25A13 gene in East Asia. 45th annual meeting of Japanese
Inherited Metabolic Diseases Society and the 2nd annual symposium
of Asian Inherited Metabolic Diseases Society, Kobe, 2002. [
Abstract ] |
|
|
| 217. |
Touma EH, Romstad A, Khneisser I, Hsiao KJ, Loiselet J, Dhondt
JL. Epidemiology of hyperphenylalaninemia (HPA) in Lebanon.
5th Meeting of the International Society for Neonatal Screening, Genova,
2002. [ Abstract
] |
|
|
218.
|
Hsiao KJ, Liu TT. Gene diagnosis and therapy
of neonatal inherited metabolic diseases. Clin Chem Lab Med
2002;40(Suppl):S25. [ Abstract
] |
|
|
219.
|
Teng YT, Wu SJ, Lam WF, Liu TT, Hsiao KJ.
Identification of three methylmalonyl CoA mutase gene mutations (1106G>A,
1741C>T, IVS9-1G>A) in Chinese patients with methylmalonic acidemia.
18th Joint Annual Conference of Biomedical Sciences, Taipei, 2003;P440. |
|
|
220.
|
Hsiao KJ, Lin CH, Fan JW, Tu
CH, Chiang SH, Liu TT. Development of the Chinese Gene Variation
Database (CGVdb). Japanese
Journal of Inherited Metabolic Diseases 2003;19:249. [
Abstract ] |
| |
|
221.
|
Liu TT, Chiu YH, Chang YC, Chiang SH,
Wu SJ, Yu WM, Yang YL, Ye J, Okano Y, Lee DH, Choeh K, Hsiao KJ.
PTS Gene Mutations in Chinese 6-Pyruvoyl-tetrahydropterin Synthase
Deficient Hyperphenylalaninemia and The Founder Effect of 155A>G,
259C>T, 286G>A Mutations in Chinese, Japanese and Korean populations.
Japanese Journal of Inherited Metabolic Diseases 2003;19:220. [
Abstract ] |
|
|
| 222. |
Hsiao KJ, Chiang SH. Developments
of neonatal screening in Taiwan. Annual Meeting of Chinese Medical
Association, Taipei, 2004. [ Abstract
] |
| |
|
| 223. |
Hsiao KJ. Neonatal screening
of glucose-6-phosphate dehydrogenase deficiency. 5th Asia Pacific
Regional Meeting of International Society for Neonatal Screening,
Shanghai, 2004;50-1. [ Abstract
] |
| |
|
| 224. |
Liu TT, Chiu YH, Chang YC, Chiang
SH, Wu SJ, Yu WM, Yang YL, Ye J, Okano Y, Lee DH, Choeh KC, Hsiao
KJ. Tetrahydrobiopterin synthesis deficient hyperphenylalaninemia
in Oriental. 5th Asia Pacific Regional Meeting of International Society
for Neonatal Screening, Shanghai, 2004;84-5. [ Abstract
] |
| |
|
| 225. |
Liu TT, Chiang SH, Wu SJ, Yen PF,
Chang YH2, Chiou JY, Hsiao KJ. Dihydropteridine reductase deficient
hyperphenylalaninemia in Chinese. 5th Asia Pacific Regional Meeting
of International Society for Neonatal Screening, Shanghai, 2004;86.
[ Abstract
] |
| |
|
| 226. |
Liu TT, Teng YT, Lee SF, Lam WF, Liu
MY, Wu SJ, Yang YL, Hsiao KJ. Screening, diagnosis and molecular
genetics of methylmalonic acidemia in Chinese. 5th Asia Pacific Regional
Meeting of International Society for Neonatal Screening, Shanghai,
2004;108. [ Abstract
] |
| |
|
| 227. |
Chiang SH, Fan CH, Wu KF, Hsiao
KJ. Quality assurance program for neonatal screening of glucose-6-phosphate
dehydrogenase deficiency. 5th Asia Pacific Regional Meeting of International
Society for Neonatal Screening, Shanghai, 2004;134. [
Abstract ] |
| |
|
| 228. |
Yang YL, Qi Y, Zhao XT, Hsiao KJ,
Shi CY, Qin J, Wu XR. Prenatal diagnosis of congenital adrenal hyperplasia
due to 21-hydroxylase deficiency. 5th Asia Pacific Regional Meeting
of International Society for Neonatal Screening, Shanghai, 2004;81.
[ Abstract
] |
| |
|
| 229. |
Wang L, Yu WM, He C, Shen S, Liu TT,
Hsiao KJ. Long-term outcome of 30 patients with 6-pyruvoyl-tetrahydropterin
synthase deficiency. 5th Asia Pacific Regional Meeting of International
Society for Neonatal Screening, Shanghai, 2004;87. [ Abstract
] |
| |
|
| 230. |
Yang YL, QI Y, Shi CY, Liu TT, Hsiao
KJ, Gu Q, Song JQ, Sun F, Qian N, Zhang ZX, Lin Q, Qin J, Wu XR.
Clinical and biochemical study for the diagnosis, treatment and prenatal
diagnosis of tetrahydrobiopterin deficiency due to 6-pyruvoyl tetrahydropterin
synthase deficiency. 5th Asia Pacific Regional Meeting of International
Society for Neonatal Screening, Shanghai, 2004;178-9. [
Abstract ] |
| |
|
| 231. |
Hsiao KJ, Chiang SH, Liu TT.
Developments of neonatal screening in Taiwan. Bratisl Lek Listy 2004;105:325-6.
[ Abstract
] |
| |
|
| 232. |
Kobayashi K, Lu YB, Ushikai M, Li
MX, Hsiao KJ, Yang Y, Lee DH, Saheki T. Population analysis
in East Asia of twelve SLC25A13 mutations found in Japanese patients
with Citrin deficiency (CTLN2 and NICCD). Bratisl Lek Listy 2004;105:328.
[ Abstract
] |
| |
|
| 233. |
Liu MY, Liu YN, Wu SJ, Liu TT, Hsiao
KJ. Identification of the PCCA and PCCB gene mutations in Chinese
propionic acidemia patients. Bratisl Lek Listy 2004;105:331. [
Abstract ] |
| |
|
| 234. |
Liu TT, Teng YT, Lee SF, Lam WF, Liu
MY, Wu SJ, Hsiao KJ. Methylmalonyl CoA mutase gene mutations
in Chinese methylmalonic acidemia. Bratisl Lek Listy 2004;105:331.
[ Abstract
] |
| |
|
| 235. |
Hsiao KJ, Chiang SH. Developments
of Neonatal Screening in Taiwan. International Conference on Genetic
Medicine and Promoting Healthcare for Rare Disorder, Taipei, 2005;255-8.
[ Abstract
] |
| |
|
| 236. |
Liu MY, Chiang SH, Yang YL, Hsiao
KJ, Liu TT. Identification of MMACHC gene mutations in northern
Chinese cblC patients with combined methylmalonic acidemia and homocystinuria.
J Inherit Metab Dis 2006;29(Suppl 1):103. [ Abstract
] |
| |
|
| 237. |
Wang L, Yu WM, He C, Li XW, Chang M,
Shen M, Shen S, Liu TT, Hsiao KJ. The difference of seizure
between patients with tetrahydropterin (BH4) deficiency and phenylketonuria
(PKU). J Inherit Metab Dis 2006;29(Suppl 1):91. [ Abstract
] |
| |
|
| 238. |
He C, Yu WM, Wang L, Li XW, Chang M,
Shen M, Shen S, Liu TT, Hsiao KJ. The incidence of tetrahydropterin
synthase deficiency in northern Chinese population and outcome of
late-treated patients. J Inherit Metab Dis 2006;29(Suppl 1):92. [
Abstract ] |
| |
|
| 239. |
Liu TT, Hsiao KJ, Chang YC,
Chiang SH, Wu SJ, Niu DM, Yu WM, Yang YL, Ye J, Jiang JH. Hyperphenylalaninemia
caused by 6-pyruvoyltetrahydropterin synthase deficiency in Chinese
population. Tetrahydrobiopterin and Alternative Treatment in PKU,
Cardiovascular Diseases, and Diabetes, Sendai, Japan, 2006. [
Abstract ] |
| |
|
| 240. |
Niu DM, Liu KM, Lee NC, Liu TT, Cheng
LY, Huang JY, Hsiao KJ. Long-term follow-up of Taiwan Chinese
patients who received early treatment for 6-pyruvoyl-tetrahydropterin
synthase deficiency. Tetrahydrobiopterin and Alternative Treatment
in PKU, Cardiovascular Diseases, and Diabetes, Sendai, Japan, 2006.
[ Abstract
] |
| |
|
| 241. |
Hsiao KJ. Neonatal Screening
of Glucose-6-Phosphate Dehydrogenase Deficiency. 2nd Congress of Asian
Society for Pediatric Research, Yokohama, 2006:74. [ Abstract
] |
| |
|
| 242. |
Chiang SH, Hsiao KJ. Quality
assurance program for neonatal screening of G6PD deficiency. 6th Asia
Pacific Regional Meeting of International Society for Neonatal Screening,
Singapore. Paediatr Child Adolesc Health 2007;47(Suppl.1):27. [
Abstract ] |
| |
|
| 243. |
Niu DM, Liu KM, Cheng LY, Lee NC, Liu
TT, Hsiao KJ, Liou PC. Long-term followup of Taiwan Chinese
patients who received early treatment for 6-pyruvoyl-tetrahydrobiopterin
synthase deficiency. J Inhert Metab Dis 2007;30(Suppl.1):18. [
Abstract ] |
| |
|
| 244. |
Liu TT, Hsiao KJ, Chiang SH,
Fang YL, Chang YC, Niu DM. Short/branched-chain acyl-CoA dehydrogenase
deficiency in a Taiwanese infant identified by MS/MS newborn screening.
J Inhert Metab Dis 2007;30(Suppl.1):43. [ Abstract
] |
| |
|
| 245. |
Liu TT, Liu MY, Fang YL, Chang YC,
Chiang SH, Niu DM, Hsiao KJ. Mutation identification for Taiwanese
patients with isolated methylmalonic acidemia. J Inherit Metab Dis
2008;31(Suppl 1): 22. [ Abstract
] |
| |
|
| 246. |
Liu TT, Hsiao KJ. Tetrahydrobiopterin
deficient phenylketonuria in Chinese. Shanghai International Pediatric
Elites Forum 2008, Branch Forum on Pediatric Endocrinology and Genetic
Metabolism. Shanghai, 2008; 36-7 [ Abstract
] |
| |
|
| 247. |
Liu MY, Chang YC, Chiang SH, Lin SP,
Jong YJ, Hsiao KJ, Liu TT. Mutation analysis of genes responsible
for B12-responsive methylmalonic aciduria in Taiwanese patients. 24th
Joint Annual Conference of Biomedical Sciences, Taipei, 2009; P114.
[ Abstract
] |
| |
|
| 248. |
Liu TT, Chang YC, Fang YL, Chiang SH,
Hsiao KJ. Tetrahydrobiopterin Synthesis Deficient Hyperphenylalaninemia
in Oriental. Japanese J Inherit Metab Dis 2010; 26(Suppl):80. [ Abstract
] |
| |
|
| 249. |
Hsiao KJ. Quality assurance
program for neonatal screening of glucose-6-phosphate dehydrogenase
deficiency. 7th Asia Pacific Regional Meeting of International Society
for Neonatal Screening, Bali. Paediatrica Indonesiana 2010;50(Suppl
5):28. [ Abstract
] |
| |
|
| 250. |
Liu TT, Chang YC, Fang YL, Chiang
SH, Hsiao KJ. Tetrahydrobiopterin synthesis deficient hyperphenylalaninemia
in East Asian Populations. 9th Asia Pacific Conference on Human Genetics,
Hong Kong, 2010; 40-1. [ Abstract
] |
| |
|
| 251. |
Chiu YH, Liu TT, Chang YC, Fang YL,
Chiang SH, Hsiao KJ. Tetrahydrobiopterin synthesis deficient hyperphenylalaninemia
in Chinese. 10th Chinese Laboratory Medicine Conference, Taipei, 2011;
50. [ Abstract ] |
| |
|
| 252. |
Hsiao KJ. Mutation profile of
methylmalonic aciduria in Chinese populations. 2nd Asian Congress
for Inherited Metabolic Diseases, Seoul, 2012; 54. [ Abstract
] |
| |
|
| 253. |
Chiang SH, Fan ML, Shiau YS, Hsiao
KJ. Quality Assurance Program for Neonatal Screening of glucose-6-phosphate
dehydrogenase deficiency. 2nd Asian Congress for Inherited Metabolic
Diseases, Seoul, 2012; 95. [ Abstract
] |
| |
|
| 254. |
Chiu YH, Chang YC, Hsiao KJ,
Liu TT. Pathogenetic mechanisms of PTS mutations associated with mild
clinical phenotype. 2nd Asian Congress for Inherited Metabolic Diseases,
Seoul, 2012; 106. [ Abstract
] |
| |
|
| 255. |
Liu MY, Chang YC, Fan YL, Chao MC,
Hsiao KJ, Liu TT. A large genomic deletion detected by SNP
array in one methylmalonic aciduria family. 2nd Asian Congress for
Inherited Metabolic Diseases, Seoul, 2012; 116. [ Abstract
] |
| |
|
| 256. |
Liu TT, Fan YL, Chiu YH, Chang YC,
Hsiao KJ. Determination of propionyl-CoA carboxylase activity
in human lymphocytes by high performance liquid chromatography. 2nd
Asian Congress for Inherited Metabolic Diseases, Seoul, 2012;117.
[ Abstract ] |
| |
|
| 257. |
Hsiao KJ. Neonatal Screening
of Glucose-6-Phosphate Dehydrogenase Deficiency in Asia. 10th Newborn
Screening Convention, Moving on: Expanded Newborn Screening for Filipino
Newborns, Manila, 2012; 34. [ Abstract
] |
| |
|
| 258. |
Hsiao KJ. Developmental Strategy
and Results of Regional Newborn Hearing Screening Program in Taipei.
2012 IALP Taiwan Composium, Taichung, 2012; 279-80. (in Chinese) [
Abstract ] |
| |
|
| 259. |
Hsiao KJ. Mutation Profile
of Methylmalonic Aciduria in Chinese Populations. 5th National Newborn
Screening Conference, Changsha, 2012; 31-4. (in Chinese) [ Abstract
] |
| |
|
| 260. |
Chiang SH, Shiau YS, Lai JY, Hsiao
KJ. Developmental Strategy and Results of Newborn Hearing Screening
Program in Taipei Area. 5th National Newborn Screening Conference,
Changsha, 2012; 54-6. (in Chinese) [ Abstract
] |
| |
|
| 261. |
Fan ML, Chiang SH, Hsiao KJ.
Quality Assurance Program for Neonatal G6PD Screening. 5th National
Newborn Screening Conference, Changsha, 2012;57-9. (in Chinese) [
Abstract ] |
| |
|
| 262. |
Hsiao KJ. Prevention and Policy
Development of Genetic and Rare Diseases in Taiwan. 2nd Capital (International)
Forum on Clinical Translational Medicine in Genetic Diseases, Beijing,
2013. (in Chinese) [ PDF
] |
| |
|
| 263. |
Hsiao KJ. The Development of
Newborn Screening for Critical Congenital Heart Disease in Taipei.
6th National Newborn Screening Conference, HuangShan, 2014;33-4. (in
Chinese) [ Abstract
] |
| |
|
| 264. |
Chiu YH, Liu YN, Fan YL, Liu TT, Hsiao
KJ. A Practical Enzymatic Assay for Determination of Propionyl-CoA
Carboxylase Activity Using High-Performance Liquid Chromatography.
J Inherit Metab Dis 2014;37(Suppl 1):S47-8. [ Abstract
] [ Poster
] |
| |
|
| 265. |
Fan ML, Shiau YS, Chiang SH, Hsiao
KJ. Quality Assurance Program for Neonatal Screening of Glucose-6-Phosphate
Dehydrogenase Deficiency. EQALM Symposium 2014, Toulouse, 2014:30-1.
[ Abstract
] [ Poster
] |
| |
|
| 266. |
Chiu YH, Liu MY, Liu YN, Hsiao KJ,
Liu TT. The Advantage of Cultured Lymphocytes in Activity Assays for
Propionyl-CoA Carboxylase and Methylmalonyl-CoA Mutase. 4th Asian
Congress for Inherited Metabolic Diseases, Taipei, 2015;PI-03. [
Abstract ] [ Poster
] |
| |
|
| 267. |
Fan ML, Chiang SH, Jomento CM, Padilla
CD, Hsiao KJ. External Quality Assurance Program for Neonatal
Screening of Glucose-6-Phosphate Dehydrogenase Deficiency. 4th Asian
Congress for Inherited Metabolic Diseases, Taipei, 2015;PL-03. [
Abstract ] [ Poster
] |
| |
|
| 268. |
Chiu YH, Liu YN, Chang
YC, Liu TT, Hsiao KJ. Identification of G6PD Common Mutations
Using a Multiplex Primer Extension-Based Method. J Inherit Metab Dis
2015;38(Suppl 1):S79-80. [ Abstract
] [ Poster
] |
| |
|
| 269. |
Hsiao KJ. G6PD Deficiency Screening:
External Quality Assurance Program Issue. 9th Asia-Pacific Regional
Meeting of the International Society for Neonatal Screening, Penang,
2015;37-8. [ Abstract
] |
| |
|
| 270. |
Chiang SH, Shiau YS, Ho HC, Liu YL,
Chung YF, Tsao PC, Hwang B, Hsiao KJ. Development of Newborn
Screening for Critical Congenital Heart Diseases in Taipei. 9th Asia-Pacific
Regional Meeting of the International Society for Neonatal Screening,
Penang, 2015;P08. [ Abstract
] [ Poster
] |
| |
|
| 271. |
Fan ML, Shiau YS, Chiang SH, Hsiao
KJ. Internal Quality Control Program for Neonatal Screening of
Glucose-6-Phosphate Dehydrogenase Deficiency. 9th Asia-Pacific Regional
Meeting of the International Society for Neonatal Screening, Penang,
2015;P09. [ Abstract
] [ Poster
] |
| |
|
| 272. |
Hsiao KJ, Yeh HL, Shiau YS,
Tsao PC, Chiang SH, Chiang PH. Long-Term Outcome of Newborn G6pd Screening
Program in Taiwan. ISNS 9th International Symposium, Hague. Int J
Neonatal Screen 2016; 2: 5, 20-1. DOI:10.3390/ijns2030005
[ Abstract ] |
| |
|
| 273. |
Chiang SH, Shiau YS, Shen Y, Yu Y,
Ho HC, Liu L, Wu YR, Chen S, Xiao-Qing Liu XQ, Hsiao KJ. Newborn
Screening for Critical Congenital Heart Diseases (CCHD) in a Remote
County of Shanghai, China. ISNS 9th International Symposium, Hague.
Int J Neonatal Screen 2016; 2: 5, 55. DOI:10.3390/ijns2030005
[ Abstract ] [ Poster
] |
| |
|
| 274. |
Fan ML, Shiau YS, Jomento
C, Chiang SH, Padilla C, Hsiao KJ. External Quality Assurance
Program for Neonatal Screening of Glucose-6-Phosphate Dehydrogenase
Deficiency. ISNS 9th International Symposium, Hague. Int J Neonatal
Screen 2016; 2: 5, 70-1. DOI:10.3390/ijns2030005
[ Abstract ] [ Poster
] |
| |
|
| 275. |
Hsiao KJ. Newborn Screening
for Lysosomal Storage Diseases - Taiwan Experience. 7th National Newborn
Screening Conference, Taiyuan, 2016;69-70. (in Chinese) [ Abstract
] |
| |
|
| 276. |
Hsiao KJ, Tsao PC, Chiang PH.
Long-Term Outcome of Newborn Glucose-6-Phosphate Dehydrogenase (G6PD)
Deficiency Screening Program in Taiwan. 14th Asia-Pacific Federation
for Clinical Biochemistry and Laboratory Medicine, Taipei, 2016; S16-1.
[ Abstract ] |
| |
|
| 277. |
Hsiao KJ. Pompe Disease: Screening,
Diagnosis and Treatment. 8th National Newborn Screening Conference,
Shenzhen, 2018; 40-43. (in Chinese) [ Abstract
] |
| |
|
| 278. |
Chiang SH, Chiang PH, Tsao
PC, Shiau YS, Hsiao KJ. Health Impacts on the Universal Newborn
G6PD Screening in Taiwan. 8th National Newborn Screening Conference,
Shenzhen, 2018; 77. (in Chinese) [ Abstract
] |
| |
|
| 279. |
Hsiao KJ, Yeh SL,
Shiau YS, Tsao PC, Chiang SH, Chiang PH, Wang YW. Outcome of Newborn
Glucose-6-Phosphate Dehydrogenase (G6PD) Screening Program in Taiwan.
26th International Conference on Health Promoting Hospitals & Health
Services, Bologna. Clinical
Health Promotion 2018;8(Suppl 1):207-8. [ Abstract
] [ Poster
] |
| |
|
| 280. |
Hsiao KJ. Prenatal Diagnosis
of Inherited Metabolic Diseases. 5th Asian Congress of Inherited Metabolic
Diseases, Wuhan, 2018; Symp. 5. [ Poster
] |
| |
|
| 281. |
Chiang SH, Fan ML, Chen HJ, Kao SM,
Wang LY, Ho HC, Geng G, Fan X, Shiau YS, Hsiao KJ. Internal
Quality Control for Newborn Screening by Tandem Mass Spectrometry.
10th ISNS International Symposium, Hangzhou. Int J Neonatal Screen
2019;5:26,96-7. DOI: 10.3390/ijns5030026.
[ Abstract ] [ Poster
] |
| |
|
| 282. |
Liu MY, Chen HJ, Wang LY, Chou YH,
Chiang SH, Kao SM, Ho HC, Hsiao KJ, Jong YJ. Newborn Screening
Facilitates Early Diagnosis of Spinal Muscular Atrophy. 10th ISNS
International Symposium, Hangzhou. Int J Neonatal Screen 2019;5:26,80.
DOI: 10.3390/ijns5030026
[ Abstract ] [ Poster
] |
| |
|
| 283. |
Chen HJ, Chung YH, Wen KT, Liao HC,
Liu MY, Kao SM, Hsiao KJ, Tsao PC. Newborn Screening of Congenital
Toxoplasmosis Infection in Northern Taiwan. 10th ISNS International
Symposium, Hangzhou. Int J Neonatal Screen 2019;5:26,80-1. DOI: 10.3390/ijns5030026
[ Abstract ] [ Poster
] |
| |
|
| 284. |
Chen HJ, Chung YH, Wen KT, Liao HC,
Liu MY, Kao SM, Hsiao KJ, Tsao PC. Newborn Screening of Congenital
Cytomegalovirus Infection in Northern Taiwan. 10th ISNS International
Symposium, Hangzhou. Int J Neonatal Screen 2019;5:26,81. DOI: 10.3390/ijns5030026
[ Abstract ] [ Poster
] |
| |
|
| 285. |
285. Tsao PC, Fan ML, Shiau YS, Chiang
SH, Huang SC, Kao SM, Chen HJ, Liao HC, Chung YH, Lai ML, Hsiao KJ.
Implementation and Outcomes of an Universal Newborn Screening Protocol
for Congenital Cytomegalovirus Infection via Saliva Samples Testing
in a Tertiary Medical Center. 5th Euro-Global Conference on Pediatrics
and Neonatology, London, 2023; P.49. [ Abstract
] [ Poster
] |
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( 臨床生化研究室 )