|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