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Molecular Genetics and Metabolism
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June 26, 2019
Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis
Arun Babu Kumar, Xinying Hong, Fan Yi, et al.
Molecular Genetics and Metabolism Reports
|
June 5, 2023
Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III
Xinying Hong, Laura Pollard, Miao He, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2026
Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review
Owen Yu, Christine Moore, Kevin Carratu, et al.
Clinical Chemistry
|
February 1, 2022
Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome
Hana Alharbi, Xinying Hong, Alyssa Ritter, et al.
Molecular Genetics and Metabolism
|
March 13, 2023
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor
Parith Wongkittichote, Xinying Hong, Stephen R Master, et al.
Molecular Genetics and Metabolism
|
August 19, 2023
Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation
Xinying Hong, Andrew C Edmondson, Alanna Strong, et al.
Clinical Chemistry
|
May 31, 2023
Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder
Parith Wongkittichote, Rebecca D Ganetzky, Matthew M Demczko, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
August 3, 2020
A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy
Joseph J Shen, Jessica L Davis, Xinying Hong, et al.
The Journal of Applied Laboratory Medicine
|
October 26, 2023
Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy
Parith Wongkittichote, Edward B Cook, Francis Jeshira Reynoso Santos, et al.
Clinical Chemistry
|
April 10, 2024
Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis
Parith Wongkittichote, Se Hyun Cho, Artis Miller, et al.
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of 5
Search research articles
Search
Showing results (11-20 of 43) with videos related to
Sort By:
Page
of 5
Molecular Genetics and Metabolism
|
June 26, 2019
Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis
Arun Babu Kumar, Xinying Hong, Fan Yi, et al.
Molecular Genetics and Metabolism Reports
|
June 5, 2023
Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III
Xinying Hong, Laura Pollard, Miao He, et al.
American Journal of Medical Genetics. Part A
|
March 26, 2026
Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review
Owen Yu, Christine Moore, Kevin Carratu, et al.
Clinical Chemistry
|
February 1, 2022
Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome
Hana Alharbi, Xinying Hong, Alyssa Ritter, et al.
Molecular Genetics and Metabolism
|
March 13, 2023
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor
Parith Wongkittichote, Xinying Hong, Stephen R Master, et al.
Molecular Genetics and Metabolism
|
August 19, 2023
Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation
Xinying Hong, Andrew C Edmondson, Alanna Strong, et al.
Clinical Chemistry
|
May 31, 2023
Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder
Parith Wongkittichote, Rebecca D Ganetzky, Matthew M Demczko, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
August 3, 2020
A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa Therapy
Joseph J Shen, Jessica L Davis, Xinying Hong, et al.
The Journal of Applied Laboratory Medicine
|
October 26, 2023
Low Arginine Suggesting the Diagnosis of Mitochondrial Cardiomyopathy
Parith Wongkittichote, Edward B Cook, Francis Jeshira Reynoso Santos, et al.
Clinical Chemistry
|
April 10, 2024
Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis
Parith Wongkittichote, Se Hyun Cho, Artis Miller, et al.
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of 5