Hsuan-Chieh (Joyce) Liao
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Detecting multiple lysosomal storage diseases by tandem mass spectrometry—a national newborn screening program in Taiwan
HC Liao, CC Chiang, DM Niu, CH Wang, SM Kao, FJ Tsai, YH Huang, ...
Clinica chimica acta 431, 80-86, 2014
Very early treatment for infantile-onset Pompe disease contributes to better outcomes
CF Yang, CC Yang, HC Liao, LY Huang, CC Chiang, HC Ho, CJ Lai, ...
The Journal of pediatrics 169, 174-180. e1, 2016
Later onset Fabry disease, cardiac damage progress in silence: experience with a highly prevalent mutation
TR Hsu, SC Hung, FP Chang, WC Yu, SH Sung, CL Hsu, I Dzhagalov, ...
Journal of the American College of Cardiology 68 (23), 2554-2563, 2016
Sulfatide analysis by mass spectrometry for screening of metachromatic leukodystrophy in dried blood and urine samples
Z Spacil, A Babu Kumar, HC Liao, C Auray-Blais, S Stark, TR Suhr, ...
Clinical chemistry 62 (1), 279-286, 2016
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
CK Chuang, HY Lin, TJ Wang, YH Huang, MJ Chan, HC Liao, YT Lo, ...
Orphanet journal of rare diseases 13 (1), 1-14, 2018
Taiwan national newborn screening program by tandem mass spectrometry for mucopolysaccharidoses types I, II, and VI
MJ Chan, HC Liao, MH Gelb, CK Chuang, MY Liu, HJ Chen, SM Kao, ...
The Journal of pediatrics 205, 176-182, 2019
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4+ 919G> A)
TR Hsu, SH Sung, FP Chang, CF Yang, HC Liu, HY Lin, CK Huang, ...
Orphanet Journal of Rare Diseases 9 (1), 1-11, 2014
Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+ 919G> A)
HC Liao, YH Huang, YJ Chen, SM Kao, HY Lin, CK Huang, HC Liu, ...
Clinica Chimica Acta 426, 114-120, 2013
Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients …
HC Liu, HY Lin, CF Yang, HC Liao, TR Hsu, CW Lo, FP Chang, CK Huang, ...
Orphanet Journal of Rare Diseases 9 (1), 1-9, 2014
Mass spectrometry but not fluorimetry distinguishes affected and pseudodeficiency patients in newborn screening for Pompe disease
HC Liao, MJ Chan, CF Yang, CC Chiang, DM Niu, CK Huang, MH Gelb
Clinical chemistry 63 (7), 1271-1277, 2017
Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+ 919G> A)
HY Lin, HC Liu, YH Huang, HC Liao, TR Hsu, CI Shen, ST Li, CF Li, ...
BMJ open 3 (7), e003146, 2013
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post–Newborn Screening Evaluation of Krabbe Disease
HC Liao, Z Spacil, F Ghomashchi, ML Escolar, J Kurtzberg, JJ Orsini, ...
Clinical chemistry 63 (8), 1363-1369, 2017
Liquid Chromatography–Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
N Lin, J Huang, S Violante, JJ Orsini, M Caggana, EE Hughes, C Stevens, ...
Clinical chemistry 63 (4), 842-851, 2017
Methylmalonic acidemia/propionic acidemia–the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups
TH Chu, YH Chien, HY Lin, HC Liao, HJ Ho, CJ Lai, CC Chiang, NC Lin, ...
Orphanet Journal of Rare Diseases 14 (1), 1-10, 2019
Clinical observations on enzyme replacement therapy in patients with Fabry disease and the switch from agalsidase beta to agalsidase alfa
HY Lin, YH Huang, HC Liao, HC Liu, TR Hsu, CI Shen, ST Li, CF Li, ...
Journal of the Chinese Medical Association 77 (4), 190-197, 2014
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan
HC Liao, TR Hsu, L Young, CC Chiang, CK Huang, HC Liu, DM Niu, ...
Molecular Genetics and Metabolism 123 (2), 140-147, 2018
Very rare condition of multiple Gaucheroma: A case report and review of the literature
SY Tseng, DM Niu, TH Chu, YC Yeh, MH Huang, TF Yang, HC Liao, ...
Molecular genetics and metabolism reports 20, 100473, 2019
Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs
MH Gelb, CR Scott, F Turecek, HC Liao
Molecular Genetics and Metabolism Reports 12, 80, 2017
Detecting 22q11. 2 deletion syndrome in newborns with low T cell receptor excision circles from severe combined immunodeficiency screening
HC Liao, CH Liao, SM Kao, CC Chiang, YJ Chen
The Journal of Pediatrics 204, 219-224. e1, 2019
AB028. Very early treatment for infantile-onset Pompe disease contributes to better outcomes: 10-year experience in one institute
CF Yang, TH Chu, LY Huang, HC Liao, WJ Soong, DM Niu
Annals of Translational Medicine 5 (Suppl 2), 2017
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