Results 71 to 80 of about 15,263 (240)
Enfermedad de gaucher: Gaucher disease
, 2018 Gaucher's disease (GD), an autosomal recessive disease, is the most frequent of the group of lysosomal storage diseases. The symptoms and signs are multisystemic, are established chronically and progressively and are due to the accumulation of ...
Mendoza-Quispe, Magaly
core +2 more sources
Gaucher disease diagnosed after bone marrow trephine biopsy — a report of two cases
Folia Histochemica et Cytobiologica, 2011 The hematologist is at the forefront of specialists to whom patients with Gaucher disease present because of cytopenia and hepatosplenomegaly. Usually, patients with such symptoms have undergone trephine biopsy.
Anna Dmoszyńska +6 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2020 Background How to address the counseling of lifetime risk of developing Parkinson’s disease in patients with Gaucher disease and their family members carrying a single variant of the GBA1 gene is not yet clearly defined.
Maja Di Rocco +13 more
doaj +1 more source
Diabetes, Obesity and Metabolism, EarlyView.ABSTRACT Aims Treatment options for metabolic dysfunction‐associated steatotic liver disease (MASLD) are limited. While glucagon‐like peptide‐1 receptor agonists (GLP‐1 RA) and sodium‐glucose cotransporter‐2 (SGLT‐2) inhibitors improve cardiovascular outcomes, comparative effectiveness on liver‐related outcomes remains unclear.
Gregor A. Maier +4 more
wiley +1 more source
Lentiviral vectors for gene therapy of Gaucher disease
, 2015 Gaucher disease (GD), a recessive disorder characterised by hepatosplenomegaly, pancytopenia and skeletal complications, is caused by deficiency of the enzyme glucocerebrosidase (GC).
Aitchison, KL
core
Outcome of early-treated type III Gaucher disease patients
, 2017 Recombinant human acid beta-glucosidase GBA (rhGBA) infusion is an effective therapy for non-neuropathic (type I) Gaucher disease (GD), but its effect on subacute neuropathic (type III) GD is still controversial.
胡務亮;彭信逢;李妮鍾;簡穎秀;孫家棟 +1 more
core +1 more source
The FEBS Journal, EarlyView.Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley +1 more source
Anàlisi molecular de la mucopolisacaridosi I, la mucopolisacaridosi II i la leucodistròfia metacromàtica en els pacients espanyols [PDF]
, 2000 [cat] La mucopolisacaridosi l, la mucopolisacaridosi II i la leucodistròfia metacromàtica sòn tres malalties Iisosòmiques hereditàries. Totes tres són degudes al defecte funcional d'un enzim Iisosòmic que és incapaç de degradar les macromolècules ...
Gort i Mas, Laura
core
Gaucher disease with foamy transformed macrophages and erythrophagocytic activity
, 2010 Foamy transformation of macrophages is typically seen in lysosomal storage disorders in patients with Niemann-Pick disease, but foamy Gaucher cells (GC) were previously reported only once, in the autopsy report.
Hans Hägglund +7 more
core +1 more source
Platelet Levels Associated With Bleeding Risk for Dental Interventions: A Systematic Review
Oral Diseases, EarlyView.ABSTRACT Objectives To evaluate evidence in relation to postoperative bleeding in humans aged ≥ 16 with preoperative platelet counts < 50,000/μL, compared to those above, undergoing dental interventions. Methods Quantitative synthesis without meta‐analysis was conducted through an electronic search conducted on Ovid MEDLINE and Embase from 1946 to ...
Guang Xu David Lim +3 more
wiley +1 more source