Results 51 to 60 of about 2,490 (187)
Journal of Orthopaedic Reports, 2023 Background: Gaucher disease (GD) is a rare condition commonly associated with skeletal symptoms. At the advanced stage, it can lead to aseptic bone necrosis (AVN) and pathological fractures.
Sadougui mohammed +5 more
doaj +1 more source
Movement Disorders, EarlyView.Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland +8 more
wiley +1 more source
Perinatal-lethal Gaucher disease presenting as hydrops fetalis
The Pan African Medical Journal, 2015 Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis.
Emira Ben Hamida +8 more
doaj +1 more source
Magnetic resonance imaging of the liver and spleen in the diagnosis of storage diseases
Вестник рентгенологии и радиологии, 2016 Storage diseases (thesaurismoses, storage reticuloses) are the common name of a large group of hyperplastic non-leukemic diseases characterized by congenital or acquired metabolic disturbances and abnormal accumulation of metabolic products in blood and ...
Z. M. Shapieva +3 more
doaj +1 more source
The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis
Movement Disorders, EarlyView.Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba +30 more
wiley +1 more source
, 2020 Gaucher’s disease is a rare genetic lysosomal storage disorder. People suffering from Gaucher’s disease do not have functional beta-glucocerebrosidase (GBA), which results in toxic build-up of undegraded substrates within the cell.
Brown, Annie
core
Gaucher’s Disease – What Should You Know
Gaucher’s Disease (GD) has a special place among ultra-rare diseases, which is a disease that occurs in less than onein 50 000 persons. The disease is caused by a hereditary autosomal deficiency of the lysosomal enzyme glucocerebrosidase.
Natalia Chojnacka +7 more
core +2 more sources
The structure of cerebrosides in Gaucher's disease*
Journal of Lipid Research, 1960 Crystalline cerebrosides were isolated from the spleen of a woman with Gaucher's disease. The cerebrosides accounted for 38 per cent of the total spleen lipids and 0.89 per cent of the fresh spleen.
G.V. Marinetti, T. Ford, Elmer Stotz
doaj +1 more source
Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo +4 more
wiley +1 more source
Lipids of the spleen in Gaucher's disease
Journal of Lipid Research, 1965 Thin-layer chromatography (TLC) was used to analyze lipids of eight spleens of patients with Gaucher's disease. Four non-Gaucher spleens were also analyzed.
William D. Suomi, Bernard W. Agranoff
doaj +1 more source