Results 51 to 60 of about 2,332 (156)
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
Gaucher’s Disease (the Modern View on the Problem)
Gastroenterologìa, 2015 The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides.
V.B. Yagmur
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
Current Opinion in Chemical Biology, 2007 Although Gaucher disease is a rare disorder, recent developments in novel means for therapeutic intervention have invigorated both academic research and pharmaceutical industry discovery programmes. The common mutations found in the lysosomal enzyme deficient in Gaucher disease, beta-glucocerebrosidase, earmark these proteins for destruction by the ...
openaire +3 more sources
Small, EarlyView.Saccharide‐appended cyclic dipeptides are designed and developed as building blocks for glycosidase‐responsive supramolecular hydrogels. Their aqueous self‐assembly enables β‐galactosidase‐triggered gel‐to‐sol and neuraminidase‐triggered sol‐to‐gel transition systems, highlighting their potential as glycosidase‐responsive soft materials for biomedical ...
Shintaro Sugiura +6 more
wiley +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
Doença de Gaucher na gravidez.
Acta Médica Portuguesa, 1997 A case of Gaucher's disease associated with pregnancy is reported. Although clinical symptoms were not present, portal hypertension was detected by ultrasound in the 13th week of pregnancy.
I B Santana +5 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