Results 41 to 50 of about 2,195 (134)
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
Neuroimaging Findings and Risk Factors for Brain Injury in Foetuses Treated for Anaemia
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Characterize neuroimaging findings in foetuses with anaemia and identify associated risk factors. Methods Retrospective cohort study of pregnancies with foetal anaemia (defined as haemoglobin > 2 standard deviations below the gestational age mean) confirmed by foetal blood sampling (FBS) and treated with intrauterine transfusion (IUT)
Laurence Sophie Carmant +6 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 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
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
Histopathology, EarlyView.This study supports the need for ancillary testing to diagnose ESC‐RCC versus TFEB‐amplified RCC, as neither morphology nor immunohistochemistry is sufficiently specific to distinguish these entities. The underlying molecular drivers in each tumour are pathogenic TSC1 or TSC2 gene variants in ESC‐RCC and TFEB gene amplification in TFEB‐amplified RCC ...
Hayley Zullow +3 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
Prevalence of Gaucher’s Disease in a Hematology Outpatient Clinic
Journal of Contemporary Medicine, 2020 Objective: Gaucher’s disease (GD) is a disease caused by glucocerebrosidase enzyme deficiency and characterized by glucoceramide accumulation in the reticuloendothelial system.
Didar Yanardağ Açık, Bilal Aygun
doaj +1 more source