Results 61 to 70 of about 9,391,147 (295)

Management goals of type 1 Gaucher disease in South Africa: An expert Delphi consensus document on good clinical practice.

open access: yesPLoS 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 epidemiology and natural history: a comprehensive review of the literature

open access: yesHematology, 2017
Objectives: The objectives of this research were: (1) to heighten awareness of Gaucher disease (GD), a rare lysosomal storage disorder with highly heterogeneous patterns of organ involvement and disease severity, to clinicians most likely to encounter ...
L. Nalysnyk   +4 more
semanticscholar   +1 more source

AI‐Enhanced Surface‐Enhanced Raman Scattering for Accurate and Sensitive Biomedical Sensing

open access: yesAdvanced Intelligent Discovery, EarlyView.
AI‐SERS advances spectral interpretation with greater precision and speed, enhancing molecular detection, biomedical analysis, and imaging. This review explores its essential contributions to biofluid analysis, disease identification, therapeutic agent evaluation, and high‐resolution biomedical imaging, aiding diagnostic decision‐making.
Seungki Lee, Rowoon Park, Ho Sang Jung
wiley   +1 more source

Gaucher disease treatment: a Brazilian consensus [PDF]

open access: yes, 2003
Gaucher disease is one of the inborn errors of metabolism from lysossomal storage diseases and the most frequent of this group. It iss an autosomal recessive disease with reoccurrence risk of 25% in each pregnancy of hetrozygotes parents.
Aranda, Paulo C.   +13 more
core   +3 more sources

Advancing design strategies in smart stimulus‐responsive liposomes for drug release and nanomedicine

open access: yesBMEMat, 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

The Link between Gaucher Disease and Parkinson’s Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism

open access: yesInternational Journal of Molecular Sciences, 2019
Sphingolipid metabolism starts with the biosynthesis of ceramide, a bioactive lipid and the backbone for the biosynthesis of complex sphingolipids such as sphingomyelin and glycosphingolipids.
Rossella Indellicato, M. Trinchera
semanticscholar   +1 more source

Chemical engineering as an essential element of industrial biotechnology in Mexico: New aims in research and university education

open access: yesThe 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

Unexpected macrophage-independent dyserythropoiesis in Gaucher disease

open access: yesHaematologica, 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

Osteoarticular pathology in Gaucher disease, complicated by tuberculosis (clinical observations)

open access: yesГений oртопедии, 2022
Introduction Gaucher disease belongs to the group of hereditary lysosomal orphan cumulative diseases caused by deficiency of the β-glucocerebrosidase enzyme. It features polysystemic affection, including bone tissue. The osteoarticular system in Gaucher
Lyudmila A. Semenova   +2 more
doaj   +1 more source

Enzyme replacement therapies: What is the best option? [PDF]

open access: yes, 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

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