Last Updated: 09/26/2026
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Found 13 publications
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.
Journal: Molecular genetics and metabolism reports
Published: July 23, 2025
Quantification of Glycosaminoglycans in Urine by Isotope Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry.
Journal: Current protocols
Published: February 25, 2025
Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis.
Journal: Molecular genetics and metabolism reports
Published: September 24, 2024
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency.
Journal: Molecular genetics and metabolism reports
Published: December 28, 2023
Multiplex Quantification of Plasma Biomarkers for Patients with Gaucher Disease Type 1.
Journal: Current protocols
Published: February 21, 2023
Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry.
Journal: Diagnostics (Basel, Switzerland)
Published: April 21, 2022
Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1.
Journal: Journal of proteome research
Published: March 29, 2022
Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.
Journal: International journal of molecular sciences
Published: August 28, 2020
Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.
Journal: International journal of molecular sciences
Published: July 24, 2020
Neonatal Mass Urine Screening Approach for Early Detection of Mucopolysaccharidoses by UPLC-MS/MS.
Journal: Diagnostics (Basel, Switzerland)
Published: October 28, 2019
Last Updated: 09/26/2026