Results 41 to 50 of about 16,645,960 (212)
Chemistry – A European Journal, EarlyView.Electrochemical fluorination (ECF, Simons process) is a valuable method for the fluorination of partially fluorinated dialkyl ethers, providing an inexpensive, scalable, and safe access to partially fluorinated ethers with a higher fluorine content and the perfluorinated analogues that are hardly accessible using other fluorination techniques ...
Tanja Knuplez +5 more
wiley +1 more source
Hemorrhagic Aspects of Gaucher Disease
Rambam Maimonides Medical Journal, 2014 Gaucher disease (GD) is an inherited lysosomal disorder, originating from deficient activity of the lysosomal enzyme glucocerebrosidase (GCase). Normally, GCase hydrolyzes glucocerebroside (GC) to glucose and ceramide; however, impaired activity of this ...
Hanna Rsenbaum
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European Journal of Case Reports in Internal Medicine, 2021 Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system ...
Dylan Vellas +3 more
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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
Disease Models & Mechanisms, 2016 Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1.
Wendy Westbroek +22 more
doaj +1 more source
ENERGY &ENVIRONMENTAL MATERIALS, EarlyView.A scalable densification strategy is proposed by incorporating sucrose into a fluoropolymer matrix to build a robust hydrogen‐bond crosslinking network. The intermolecular interactions effectively facilitate polar phase transformation and reduce free volume fraction.
Lingni Yang +11 more
wiley +1 more source
Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System
Journal of Immunology Research, 2015 Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear ...
Juan Marcos Mucci, Paula Rozenfeld
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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
Patients with Gaucher disease display systemic oxidative stress dependent on therapy status
Molecular Genetics and Metabolism Reports, 2020 Gaucher disease is an autosomal recessive metabolic disorder caused by mutations in GBA1, which encodes for the lysosomal hydrolase enzyme, β-glucocerebrosidase.
Reena V. Kartha +9 more
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Doppler ultrasound study of portal hemodynamics in patients with Gaucher disease [PDF]
Archives of Biological Sciences, 2015 Gaucher disease is a lysosomal storage disorder caused by a deficiency of the enzyme glucocerebrosidase and characterized by the presence of pathological macrophages laden with glucosylceramide.
Šarenac-Kovač Radmila +4 more
doaj +1 more source