Results 51 to 60 of about 10,573,620 (195)
Gaucher Disease and the Synucleinopathies [PDF]
BioMed Research International, 2006 Several recent observations suggest a connection between Gaucher disease, the inherited deficiency of glucocerebrosidase, and the synucleinopathies. Rare patients have been observed who develop both Gaucher disease and parkinsonism. Autopsy studies on these subjects reveal synuclein‐positive Lewy bodies and inclusions.
Hruska, Kathleen S. +2 more
openaire +2 more sources
Gaucher’s disease: orphan disease in pediatric practice
Лечащий Врач, 2021 Approaches to diagnostics and treatment of Gaucher’s disease in children were considered. A clinical case is given.
T. A. Bokova
doaj
Gaucher's disease with myocardial involvement in pregnancy
São Paulo Medical Journal, 2002 CONTEXT: Described originally in 1882, Gaucher's disease is the most prevalent of storage disorders. This autosomal recessive disease is caused by a defective gene responsible for coding the beta-glucosidase enzyme, essential in the hydrolysis of ...
Maria Regina Torloni +2 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2012 BackgroundClinical features, complications and treatments of Gaucher’s disease (GD), a rare autosomal–recessive disorder due to a confirmed lysosomal enzyme (glucocerebrosidase) deficiency, are described.MethodsAll patients with known GD, living in ...
J. Stirnemann +25 more
semanticscholar +1 more source
Ferritin as a Nanoparticle Scaffold for Plant‐Produced Next‐Generation Subunit Vaccines
Biotechnology and Bioengineering, EarlyView.ABSTRACT Protein nanoparticles offer an innovative approach to next‐generation subunit vaccine development by displaying antigenic sequences on the nanoparticle surface. Compared to traditional subunit vaccines, protein nanoparticle vaccines often show improved interaction with the immune system due to their particulate size and repetitive epitope ...
Jordan T. VanderBurgt +3 more
wiley +1 more source
The Canadian Journal of Chemical Engineering, EarlyView.Abstract On the centennial of higher education in Chemical Engineering in Mexico, it is pertinent to revisit the key stages that have contributed to its consolidation as a vital discipline for the nation's scientific and technological advancement. Although the initial mission of chemical engineering education was primarily oriented toward the training ...
Agustín López Munguía +3 more
wiley +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source
Gaucher's disease in children: Case report from Afghanistan with literature review
Global Pediatrics, 2023 Introduction and importance: Gaucher's disease (GD) or lysosomal storage disease, is one of the rare genetic disorders resulting from glucocerebrosidase deficiency.
Turyalai Hakimi +6 more
doaj +1 more source
Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review
Movement Disorders Clinical Practice, EarlyView.Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini +5 more
wiley +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