Xinying Hong
Medical Genetics
3401 Civic Center Blvd
Division Of Medical Genetics And Genomics
Philadelphia, PA 19104
Division Of Medical Genetics And Genomics
Philadelphia, PA 19104
Last Updated: 09/26/2026
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Found 42 publications
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.
Journal: Molecular genetics and metabolism
Published: March 25, 2026
Novel HGSNAT Variants Identified in the Oldest Siblings With MPS IIIC: Functional Characterization and Literature Review.
Journal: American journal of medical genetics. Part A
Published: January 16, 2026
In vivo adenine base editing rescues brain biochemistry and improves motor deficits in a common phenylketonuria variant.
Journal: Molecular therapy. Advances
Published: December 17, 2025
Base editing strategies for in vivo correction of two highly recurrent phenylketonuria variants.
Journal: Molecular therapy. Nucleic acids
Published: September 08, 2025
Investigating Elevated Glutaric Acid in Early Infancy.
Journal: The journal of applied laboratory medicine
Published: September 02, 2025
Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots.
Journal: Molecular genetics and metabolism
Published: March 29, 2025
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: March 14, 2024
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Journal: Molecular genetics and metabolism
Published: January 29, 2024
Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis.
Journal: Clinical chemistry
Published: December 30, 2023
Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment options.
Journal: JIMD reports
Published: October 16, 2023
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency.
Journal: Molecular genetics and metabolism
Published: September 30, 2023
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Journal: Molecular genetics and metabolism
Published: July 17, 2023
Last Updated: 09/26/2026