Value of glucosylsphingosine (Lyso-Gb1) as a biomarker in Gaucher disease: a systematic literature review

S Revel-Vilk, M Fuller, A Zimran - International journal of molecular …, 2020 - mdpi.com
The challenges in the diagnosis, prognosis, and monitoring of Gaucher disease (GD), an
autosomal recessive inborn error of glycosphingolipid metabolism, can negatively impact …

Hereditary hyperferritinemia

A Piperno, S Pelucchi, R Mariani - International Journal of Molecular …, 2023 - mdpi.com
Ferritin is a ubiquitous protein that is present in most tissues as a cytosolic protein. The
major and common role of ferritin is to bind Fe2+, oxidize it and sequester it in a safe form in …

Phagocytosis of erythrocytes from gaucher patients induces phenotypic modifications in macrophages, driving them toward gaucher cells

L Dupuis, M Chauvet, E Bourdelier, M Dussiot… - International Journal of …, 2022 - mdpi.com
Gaucher disease (GD) is caused by glucocerebrosidase deficiency leading to the
accumulation of sphingolipids in macrophages named “Gaucher's Cells”. These cells are …

Hydrogen peroxide diffusion across the red blood cell membrane occurs mainly by simple diffusion through the lipid fraction

F Orrico, AC Lopez, N Silva, M Franco… - Free Radical Biology …, 2025 - Elsevier
Abstract Hydrogen peroxide (H 2 O 2) is an oxidant produced endogenously by several
enzymatic pathways. While it can cause molecular damage, H 2 O 2 also plays a role in …

Effects of sphingolipids overload on red blood cell properties in Gaucher disease

L Dupuis, C Chipeaux, E Bourdelier… - Journal of cellular …, 2020 - Wiley Online Library
Gaucher disease (GD) is a genetic disease with mutations in the GBA gene that encodes
glucocerebrosidase causing complications such as anaemia and bone disease. GD is …

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients

V Malinová, H Poupětová, M Řeboun… - International Journal of …, 2023 - mdpi.com
A personalized treatment decision for Gaucher disease (GD) patients should be based on
relevant markers that are specific to GD, play a direct role in GD pathophysiology, exhibit low …

Semaphorin 7A: A novel marker of disease activity in Gaucher disease

M Franco, N Reihani, L Dupuis, E Collec… - American journal of …, 2020 - Wiley Online Library
Gaucher disease (GD) is a recessively inherited lysosomal storage disorder in which
sphingolipids accumulates in the macrophages that transform into Gaucher cells. A growing …

Parcours diagnostique des patients atteints de maladie de Gaucher de type 1: enquête auprès de médecins internistes et hématologues

S Deriaz, C Serratrice, O Lidove, E Noël… - La Revue de Médecine …, 2019 - Elsevier
Résumé Introduction La maladie de Gaucher (MG) est une maladie génétique lysosomale,
due à un déficit d'activité de la bêta-glucocérébrosidase, caractérisée par des atteintes …

[引用][C] Gaucher disease: About an observation

FE IRINEU, G ZOUIRI… - World Journal …, 2024 - World Journal of Advanced …