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 | 129 | 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 | 104 | 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 | 99 | 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 | 64 | 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, 1-14, 2018 | 58 | 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 | 57 | 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, 1-11, 2014 | 41 | 2014 |
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, 1-9, 2014 | 40 | 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 | 39 | 2013 |
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, 1-10, 2019 | 37 | 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 | 36 | 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 | 35 | 2017 |
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 | 31 | 2018 |
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 | 28 | 2017 |
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 | 25 | 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 | 23 | 2013 |
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 | 15 | 2019 |
Liquid chromatography–tandem mass spectrometry in newborn screening laboratories MH Gelb, K Basheeruddin, A Burlina, HJ Chen, YH Chien, G Dizikes, ... International Journal of Neonatal Screening 8 (4), 62, 2022 | 14 | 2022 |
Evaluation of two methods for quantification of glycosaminoglycan biomarkers in newborn dried blood spots from patients with severe and attenuated mucopolysaccharidosis Type II ZM Herbst, L Urdaneta, T Klein, BK Burton, K Basheeruddin, HC Liao, ... International Journal of Neonatal Screening 8 (1), 9, 2022 | 14 | 2022 |
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 | 13 | 2019 |