Results 41 to 50 of about 28,810 (212)
Journal of Medical Case Reports, 2018 Background Gaucher disease is an autosomal recessive disorder resulting from the accumulation of glucocerebroside in the cells of the macrophage-monocyte system caused by deficiency in lysosomal glucocerebrosidase.
Meng Yang
doaj +1 more source
Advancing design strategies in smart stimulus‐responsive liposomes for drug release and nanomedicine
BMEMat, EarlyView.Schematic illustration of stimulus‐responsive liposomes designed for controlled drug release and nanomedicine. The innermost circle represents different liposomal structures, including unilamellar, multilamellar, and multivesicular liposomes. The middle layer illustrates the responsive phospholipid components.
Yuchen Guo +9 more
wiley +1 more source
Unusual presentation of adult Gaucher′s disease: A long and difficult road to diagnosis
Indian Journal of Endocrinology and Metabolism, 2011 Gaucher′s disease is the most frequent sphingolipid storage disease. We present a case of type 1 non-neuropathic type of adult Gaucher′s disease patient with atypical presentation.
Vishakha V Jain, Samir Yelwatkar
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PLoS ONE, 2023 BackgroundGaucher disease is a rare autosomal recessive glycosphingolipid storage disease that ultimately leads to reduced life expectancy. Management of Gaucher disease is challenging due to its wide genotypic and phenotypic variability and changing ...
Vernon Johan Louw +2 more
doaj +1 more source
Gaucher Disease: an underdiagnosed disorder [PDF]
, 2011 OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype.
Aoqui, William Luiz +4 more
core +4 more sources
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
Enzyme replacement therapies: What is the best option? [PDF]
, 2018 Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the ...
Barar, Jaleh +4 more
core +2 more sources
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
Unexpected macrophage-independent dyserythropoiesis in Gaucher disease
Haematologica, 2016 Gaucher disease is a rare inherited disease caused by a deficiency in glucocerebrosidase leading to lipid accumulation in cells of mononuclear-macrophage lineage known as Gaucher cells.
Nelly Reihani +9 more
doaj +1 more source
Conformationally-Locked C-Glycosides: Tuning Aglycone Interactions for Optimal Cheperone Behaviour in Gaucher Fibroblasts [PDF]
, 2016 A series of conformationally locked C-glycosides based on the 3-aminopyrano[3,2-b]pyrrol-2(1H)-one (APP) scaffold has been synthesized. The key step involved a totally stereocontrolled C-Michael addition of a serine-equivalent C-nucleophile to tri-O ...
Avenoza, A. +9 more
core +1 more source