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Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.326-333

2020

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Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Journal of medical genetics, 2017-04, Vol.54 (4), p.288-296

2017

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Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

American journal of human genetics, 2019-04, Vol.104 (4), p.625-637

2019

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Stratification of Fabry mutations in clinical practice: a closer look at α‐galactosidase A‐3D structure

Journal of internal medicine, 2020-11, Vol.288 (5), p.593-604

2020

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Plasma Lysosphingolipid Biomarker Measurement by Liquid Chromatography Tandem Mass Spectrometry

Methods in molecular biology (Clifton, N.J.), 2022, Vol.2546, p.271

2022

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Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing

Clinical genetics, 2021-06, Vol.99 (6), p.761-771

2021

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Fabry disease Enzyme Enhancement on migalastat Study: FEES

Clinica chimica acta, 2024-07, Vol.561, p.119843, Article 119843

2024

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Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages

Nephrology, dialysis, transplantation, 2018-08, Vol.33 (8), p.1362-1372

2018

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Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy

Journal of medical genetics, 2019-08, Vol.56 (8), p.548-556

2019

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Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease patients

Clinica chimica acta, 2024-03, Vol.556, p.117851-117851, Article 117851

2024

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Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

Genetics in medicine, 2021, Vol.23 (1), p.192-201

2021

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The mutation p.D313Y is associated with organ manifestation in Fabry disease

Clinical genetics, 2017-11, Vol.92 (5), p.528-533

2017

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Volumetric absorptive microsampling coupled with UHPLC-MS/MS for the determination of Lyso-Gb3 as Fabry disease diagnostic biomarker

Microchemical journal, 2024-05, Vol.200, p.110494, Article 110494

2024

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The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease

Clinica chimica acta, 2020-01, Vol.500, p.120-127

2020

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Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS

Clinica chimica acta, 2020-12, Vol.511, p.132-137

2020

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Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant

JIMD Reports, Volume 45, 2019, Vol.45, p.95-98

2019

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Biomarkers in Anderson-Fabry Disease

International journal of molecular sciences, 2020-10, Vol.21 (21), p.8080

2020

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Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients

Blood cells, molecules, & diseases, 2020-02, Vol.80, p.102379-102379, Article 102379

2020

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Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity

Molecular genetics and metabolism, 2022-09, Vol.137 (1-2), p.173-178

2022

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A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females

Molecular genetics and metabolism, 2020-07, Vol.130 (3), p.209-214

2020

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Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease

Molecular genetics and metabolism, 2017-08, Vol.121 (4), p.320-324

2017

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Investigation of bone mineral density and the changes by enzyme replacement therapy in patients with Fabry disease

Molecular genetics and metabolism, 2023-08, Vol.139 (4), p.107634-107634, Article 107634

2023

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Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease

Frontiers in immunology, 2022-12, Vol.13, p.1024963

2022

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Fabry disease genotype, phenotype, and migalastat amenability: Insights from a national cohort

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Systemic mRNA Therapy for the Treatment of Fabry Disease: Preclinical Studies in Wild-Type Mice, Fabry Mouse Model, and Wild-Type Non-human Primates

Stratification of Fabry mutations in clinical practice: a closer look at α‐galactosidase A‐3D structure

Plasma Lysosphingolipid Biomarker Measurement by Liquid Chromatography Tandem Mass Spectrometry

Accuracy diagnosis improvement of Fabry disease from dried blood spots: Enzyme activity, lyso‐Gb3 accumulation and GLA gene sequencing

Fabry disease Enzyme Enhancement on migalastat Study: FEES

Fabry disease under enzyme replacement therapy-new insights in efficacy of different dosages

Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy

Globotriaosylsphingosine improves risk stratification of kidney progression in Fabry disease patients

Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease

The mutation p.D313Y is associated with organ manifestation in Fabry disease

Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis

Volumetric absorptive microsampling coupled with UHPLC-MS/MS for the determination of Lyso-Gb3 as Fabry disease diagnostic biomarker

The clinical utility of total concentration of urinary globotriaosylsphingosine plus its analogues in the diagnosis of Fabry disease

Combined analysis of plasma or serum glucosylsphingosine and globotriaosylsphingosine by UPLC-MS/MS

Elevated Lyso-Gb3 Suggests the R118C GLA Mutation Is a Pathological Fabry Variant

Biomarkers in Anderson-Fabry Disease

Plasma adiponectin is a potential biomarker for organ involvement in male Fabry disease patients

Agalsidase-β should be proposed as first line therapy in classic male Fabry patients with undetectable α-galactosidase A activity

A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females

Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease

Investigation of bone mineral density and the changes by enzyme replacement therapy in patients with Fabry disease

Assessment and impact of dose escalation on anti-drug antibodies in Fabry disease

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