Psychosine, a marker of Krabbe phenotype and treatment effect ML Escolar, BT Kiely, E Shawgo, X Hong, MH Gelb, JJ Orsini, D Matern, ... Molecular genetics and metabolism 121 (3), 271-278, 2017 | 70 | 2017 |
Multiplex tandem mass spectrometry enzymatic activity assay for newborn screening of the mucopolysaccharidoses and type 2 neuronal ceroid lipofuscinosis Y Liu, F Yi, AB Kumar, N Kumar Chennamaneni, X Hong, CR Scott, ... Clinical chemistry 63 (6), 1118-1126, 2017 | 62 | 2017 |
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots X Hong, J Daiker, M Sadilek, N Ruiz-Schultz, AB Kumar, S Norcross, ... Genetics in Medicine 23 (3), 555-561, 2021 | 52 | 2021 |
Macrophages expressing GALC improve peripheral Krabbe disease by a mechanism independent of cross-correction NI Weinstock, D Shin, N Dhimal, X Hong, EE Irons, NJ Silvestri, CB Reed, ... Neuron 107 (1), 65-81. e9, 2020 | 52 | 2020 |
Newborn screening for mucopolysaccharidoses: results of a pilot study with 100 000 dried blood spots CR Scott, S Elliott, X Hong, JY Huang, AB Kumar, F Yi, N Pendem, ... The Journal of pediatrics 216, 204-207, 2020 | 48 | 2020 |
N-acyl-O-phosphocholineserines: Structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease R Sidhu, Y Mondjinou, M Qian, H Song, AB Kumar, X Hong, FF Hsu, ... Journal of lipid research 60 (8), 1410-1424, 2019 | 40 | 2019 |
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots X Hong, J Daiker, M Sadilek, AE DeBarber, J Chiang, J Duan, ... Genetics in Medicine 22 (10), 1606-1612, 2020 | 29 | 2020 |
Leukocyte and dried blood spot arylsulfatase A assay by tandem mass spectrometry X Hong, AB Kumar, J Daiker, F Yi, M Sadilek, F De Mattia, F Fumagalli, ... Analytical chemistry 92 (9), 6341-6348, 2020 | 29 | 2020 |
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 | 29 | 2017 |
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 | 27 | 2022 |
A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors … X Hong, M Sadilek, MH Gelb Genetics in Medicine 22 (7), 1262-1268, 2020 | 24 | 2020 |
Detection of mucopolysaccharidosis III-A (Sanfilippo Syndrome-A) in dried blood spots (DBS) by tandem mass spectrometry F Yi, X Hong, AB Kumar, C Zong, GJ Boons, CR Scott, F Turecek, ... Molecular genetics and metabolism 125 (1-2), 59-63, 2018 | 21 | 2018 |
Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis AB Kumar, X Hong, F Yi, T Wood, MH Gelb Molecular genetics and metabolism 127 (3), 207-211, 2019 | 18 | 2019 |
A simple approach to study the conformational switching of i-motif DNA by fluorescence anisotropy H Huang, X Hong, F Liu, N Li Analyst 140 (17), 5987-5991, 2015 | 13 | 2015 |
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature JRC Priestley, LM Pace, K Sen, A Aggarwal, CAPF Alves, IM Campbell, ... Molecular Genetics and Metabolism Reports 33, 100931, 2022 | 12 | 2022 |
Neuron-specific ablation of the Krabbe disease gene galactosylceramidase in mice results in neurodegeneration C Kreher, J Favret, NI Weinstock, M Maulik, X Hong, MH Gelb, L Wrabetz, ... PLoS biology 20 (7), e3001661, 2022 | 11 | 2022 |
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix M Trinidad, X Hong, S Froelich, J Daiker, J Sacco, HP Nguyen, ... Genome Biology 24 (1), 172, 2023 | 10 | 2023 |
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme … X Hong, AB Kumar, CR Scott, MH Gelb Molecular genetics and metabolism 124 (2), 101-108, 2018 | 10 | 2018 |
A fluorescence anisotropy study of the DNA hybridization reaction mediated by formation of the C–Ag+–C structure X Hong, H Huang, M Chen, F Liu, N Li Analytical Methods 8 (15), 3156-3162, 2016 | 8 | 2016 |
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and … ZM Herbst, X Hong, L Urdaneta, T Klein, C Waggoner, HC Liao, F Kubaski, ... Molecular Genetics and Metabolism 140 (1-2), 107632, 2023 | 6 | 2023 |