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Multiplex Analysis of Novel Urinary Lyso-Gb3‑Related Biomarkers for Fabry Disease by Tandem Mass Spectrometry

Analytical chemistry (Washington), 2013-02, Vol.85 (3), p.1743-1752

2013

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UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

Analytica chimica acta, 2016-09, Vol.936, p.139-148

2016

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LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease

Clinica chimica acta, 2012-12, Vol.414, p.273-280

2012

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Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots

International journal of molecular sciences, 2023-02, Vol.24 (4), p.3223

2023

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Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients

Clinica chimica acta, 2016-01, Vol.452, p.191-198

2016

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Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics

Analytical chemistry (Washington), 2012-03, Vol.84 (6), p.2745-2753

2012

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Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.457-477

2018

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Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

International journal of neonatal screening, 2021-03, Vol.7 (1), p.18

2021

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Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC-MS/MS

Bioanalysis, 2016-02, Vol.8 (3), p.179-191

2016

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Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles

International journal of molecular sciences, 2020-08, Vol.21 (17), p.6114

2020

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An improved method for glycosaminoglycan analysis by LC–MS/MS of urine samples collected on filter paper

Clinica chimica acta, 2012-04, Vol.413 (7-8), p.771-778

2012

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Tandem Mass Spectrometry Quantitation of Lyso‐Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients

Current Protocols in Human Genetics, 2016-07, Vol.90 (1), p.17.23.1-17.23.9

2016

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Technological update of the Provincial Neonatal Urine Screening Program in Quebec

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107761, Article 107761

2024

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Tandem mass spectrometry analysis of dried urine spots for newborn screening of mucopolysaccharidoses

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107015, Article 107015

2023

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Mass or high-risk screening of mucopolysaccharidoses using urine samples collected on filter paper

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S20-S20

2018

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The investigation of the profiles of Lyso-Gb3 and related analogues in children with Fabry disease using tandem mass spectrometry

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107817, Article 107817

2024

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Discovery of novel MPS II neuronopathic biomarkers using untargeted metabolomic approaches

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107821, Article 107821

2024

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Analysis by tandem mass spectrometry of lyso-Gb3and related analogues in dried blood spots: A convenient way to monitor patients affected with Fabry disease

Molecular genetics and metabolism, 2024-02, Vol.141 (2)

2024

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Analysis by tandem mass spectrometry of lyso-Gb and related analogues in dried blood spots: A convenient way to monitor patients affected with Fabry disease

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107762, Article 107762

2024

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Newborn mass urine screening for Morquio syndrome type A patients using an innovative UPLC-MS/MS approach

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S26-S26

2019

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Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

Journal of medical genetics, 2021-10, Vol.58 (10), p.692-700

2021

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Can the use of urinary and plasma globotriaosylsphingosine and their analogues as diagnostic biomarkers be confirmed in male patients with Fabry disease?

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107089, Article 107089

2023

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High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency

Clinica chimica acta, 2014-09, Vol.436, p.249-255

2014

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Efficient urine filter paper mass spectrometry methodology for glycosaminoglycan quantification

Molecular genetics and metabolism, 2011-02, Vol.102 (2), p.S5-S6

2011

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The importance of mass spectrometry-based untargeted metabolomic approaches for biomarker discovery in lysosomal diseases

Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S17-S17

2021

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Multiplex Analysis of Novel Urinary Lyso-Gb3‑Related Biomarkers for Fabry Disease by Tandem Mass Spectrometry

UPLC-MS/MS detection of disaccharides derived from glycosaminoglycans as biomarkers of mucopolysaccharidoses

LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease

Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots

Tandem mass spectrometry multiplex analysis of methylated and non-methylated urinary Gb3 isoforms in Fabry disease patients

Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics

Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders

Neonatal Urine Screening Program in the Province of Quebec: Technological Upgrade from Thin Layer Chromatography to Tandem Mass Spectrometry

Evaluation of urinary keratan sulfate disaccharides in MPS IVA patients using UPLC-MS/MS

Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles

An improved method for glycosaminoglycan analysis by LC–MS/MS of urine samples collected on filter paper

Tandem Mass Spectrometry Quantitation of Lyso‐Gb3 and Six Related Analogs in Plasma for Fabry Disease Patients

Technological update of the Provincial Neonatal Urine Screening Program in Quebec

Tandem mass spectrometry analysis of dried urine spots for newborn screening of mucopolysaccharidoses

Mass or high-risk screening of mucopolysaccharidoses using urine samples collected on filter paper

The investigation of the profiles of Lyso-Gb3 and related analogues in children with Fabry disease using tandem mass spectrometry

Discovery of novel MPS II neuronopathic biomarkers using untargeted metabolomic approaches

Analysis by tandem mass spectrometry of lyso-Gb3and related analogues in dried blood spots: A convenient way to monitor patients affected with Fabry disease

Analysis by tandem mass spectrometry of lyso-Gb and related analogues in dried blood spots: A convenient way to monitor patients affected with Fabry disease

Newborn mass urine screening for Morquio syndrome type A patients using an innovative UPLC-MS/MS approach

Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

Can the use of urinary and plasma globotriaosylsphingosine and their analogues as diagnostic biomarkers be confirmed in male patients with Fabry disease?

High-throughput tandem mass spectrometry multiplex analysis for newborn urinary screening of creatine synthesis and transport disorders, Triple H syndrome and OTC deficiency

Efficient urine filter paper mass spectrometry methodology for glycosaminoglycan quantification

The importance of mass spectrometry-based untargeted metabolomic approaches for biomarker discovery in lysosomal diseases

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