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Xinying Hong
Xinying Hong
Children's Hospital of Philadelphia
在 chop.edu 的电子邮件经过验证
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引用次数
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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
702017
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
622017
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
522021
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
522020
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
482020
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
402019
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
292020
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
292020
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
292017
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
272022
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
242020
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
212018
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
182019
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
132015
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
122022
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
112022
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
102023
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
102018
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
82016
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
62023
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