Gaucher disease in bone: from pathophysiology to practice

D Hughes, P Mikosch, N Belmatoug… - Journal of Bone and …, 2019 - academic.oup.com
Gaucher disease (GD) is a rare, genetic lysosomal disorder leading to lipid accumulation
and dysfunction in multiple organs. Involvement of the skeleton is one of the most prevalent …

Gaucher disease: haematological presentations and complications

AS Thomas, A Mehta… - British journal of …, 2014 - Wiley Online Library
Gaucher disease (GD) is an autosomal recessive lysosomal storage disease, caused by
deficiency of the enzyme glucocerebrosidase, required for the degradation of …

Understanding the natural history of G aucher disease

PK Mistry, N Belmatoug, S vom Dahl… - American journal of …, 2015 - Wiley Online Library
Gaucher disease is a rare and extraordinarily heterogeneous inborn error of metabolism that
exhibits diverse manifestations, a broad range of age of onset of symptoms, and a wide …

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 …

In-depth phenotyping for clinical stratification of Gaucher disease

S D'Amore, K Page, A Donald, K Taiyari, B Tom… - Orphanet Journal of …, 2021 - Springer
Abstract Background The Gaucher Investigative Therapy Evaluation is a national clinical
cohort of 250 patients aged 5–87 years with Gaucher disease in the United Kingdom—an …

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 …

Effects of Momordica charantia L. on the Blood Rheological Properties in Diabetic Patients

EL França, EB Ribeiro, EF Scherer… - BioMed research …, 2014 - Wiley Online Library
An evaluation of the rheological properties and the effects of Momordica. charantia L.(M.
charantia) nanoparticles and polyethylene glycol (PEG) microspheres adsorbed with M …

Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder

AW Winter, A Salimi, LH Ospina… - British Journal of …, 2019 - bjo.bmj.com
Gaucher disease (GD) results from a deficiency of glucocerebrosidase activity and the
subsequent accumulation of the enzyme's metabolites, principally glucosylsphingosine and …

Optimization of ultra-high pressure liquid chromatography–tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their …

C Chipeaux, M de Person, N Burguet… - … of Chromatography a, 2017 - Elsevier
While important advances have been recently achieved in the optimization of lipid classes'
separation, information on the specific determination of medium polarity lipids such as …

Red cell adhesion in human diseases

Y Colin, C Le Van Kim, W El Nemer - Current opinion in …, 2014 - journals.lww.com
RBC adhesiveness might be involved in complications such as the vaso-occlusive crisis in
SCD, thrombosis in polycythemia vera, splenic sequestration in hereditary spherocytosis …