[HTML][HTML] Lentivector iterations and pre-clinical scale-up/toxicity testing: targeting mobilized CD34+ cells for correction of Fabry disease

J Huang, A Khan, BC Au, DL Barber… - … Therapy-Methods & …, 2017 - cell.com
Fabry disease is a rare lysosomal storage disorder (LSD). We designed multiple
recombinant lentivirus vectors (LVs) and tested their ability to engineer expression of human …

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

M Abaoui, M Boutin, P Lavoie, C Auray-Blais - Clinica Chimica Acta, 2016 - Elsevier
Background Fabry disease is a lysosomal storage disorder leading to the accumulation of
glycosphingolipids in biological fluids and tissues. Globotriaosylceramide (Gb 3) and …

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

G Effraimidis, U Feldt-Rasmussen… - Journal of Medical …, 2021 - jmg.bmj.com
Introduction Recent studies showed the usefulness of globotriaosylsphingosine (lyso-Gb3)
and related analogues, deacylated forms of globotriaosylceramide (Gb3), for high-risk …

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

M Boutin, P Lavoie, M Abaoui… - Current protocols in …, 2016 - Wiley Online Library
Fabry disease is an X‐linked lysosomal storage disorder, caused by a deficit in α‐
galactosidase A enzyme activity, leading to the storage of sphingolipids such as …

High-risk screening for Fabry disease in a Canadian cohort of chronic kidney disease patients

C Auray-Blais, P Lavoie, M Abaoui, AM Côté… - Clinica Chimica …, 2020 - Elsevier
Background Fabry disease is an X-linked lysosomal storage disorder with a highly
heterogeneous clinical presentation. This complex disease is caused by a deficient activity …

High‐Risk Screening for Fabry Disease: Analysis by Tandem Mass Spectrometry of Globotriaosylceramide (Gb3) in Urine Collected on Filter Paper

C Auray‐Blais, P Lavoie, M Boutin… - Current Protocols in …, 2017 - Wiley Online Library
Fabry disease is a complex, panethnic lysosomal storage disorder. It is characterized by the
accumulation of glycosphingolipids in tissues, organs, the vascular endothelium, and …

Fabry Disease Biomarkers: Analysis of Urinary Lyso‐Gb3 and Seven Related Analogs Using Tandem Mass Spectrometry

P Lavoie, M Boutin, M Abaoui… - Current Protocols in …, 2016 - Wiley Online Library
Fabry disease is an X‐linked lysosomal storage disorder caused by the absence or
reduction of the enzyme α‐galactosidase A activity. Currently, globotriaosylsphingosine …

Analysis of globotriaosylceramide (Gb3) isoforms/analogs in unfractionated leukocytes, B lymphocytes and monocytes from Fabry patients using ultra-high …

A Toupin, P Lavoie, MF Arthus, M Abaoui, M Boutin… - Analytica chimica …, 2018 - Elsevier
Fabry disease is an X-linked lysosomal storage disorder with marked variability in the
phenotype and genotype. Glycosphingolipids such as globotriaosylceramide (Gb 3) …

[HTML][HTML] Altered immune phenotypes in subjects with Fabry disease and responses to switching from agalsidase alfa to agalsidase beta

RP Limgala, T Jennelle, M Plassmeyer… - American journal of …, 2019 - ncbi.nlm.nih.gov
Fabry disease (FD) is a rare X-linked genetic disorder caused by mutations in the GLA gene
encoding the lysosomal enzyme, α-galactosidase A (α-gal A). The mutations lead to lack of …

High‐Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non‐Methylated Gb3 Isoforms Using Tandem Mass Spectrometry

M Abaoui, M Boutin, P Lavoie… - Current Protocols in …, 2016 - Wiley Online Library
Fabry disease is a multisystemic, X‐linked lysosomal storage disorder caused by mutations
in the GLA gene, leading to α‐galactosidase A deficiency and resulting in the accumulation …