Results 151 to 160 of about 84,505 (291)

Lysosomal Storage Disease

Iranian Journal of Child Neurology, 2012
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2.   For Reading more pls see PDF    
openaire   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Cut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2022
Li G, Tian L, Guo Y, Li Y, Sun M, Zou H.
europepmc   +1 more source

Pharmacological evaluation of Adenostemma lavenia acetone extract in Swiss Albino mice: Analgesic, anti‐inflammatory, and thrombolytic insights from in vivo, in vitro, density functional theory, and molecular docking studies

Animal Models and Experimental Medicine, EarlyView.
Adenostemma lavenia, a traditionally used medicinal plant, has been employed to manage pain, inflammation, and circulatory issues. This study investigates the analgesic, anti‐inflammatory, and thrombolytic potentials of the acetone extract of A. lavenia leaves (AEAL) using in vivo, in vitro, and in silico methods.
Nusrat Jahan Moon, Mahathir Mohammad, Md. Jahirul Islam Mamun, Fahmina Binty Azim Nova, Nazmul Hasan Eshaque, Md. Hossain Rasel, Zobayed Islam, Md. Mahmudul Hasan, Md. Liakot Ali, Md. Tanvir Chowdhury, S. M. Moazzem Hossen   +10 more
wiley   +1 more source

Predominance of Ferroptotic Cell Death Mechanisms in Substantia Nigra Neurodegeneration in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The extent of neuronal loss in Parkinson's disease (PD) and the pathogenic processes underlying neuronal dysfunction and loss remain poorly understood. Here, we analyzed the expression of key molecules representing different cell death signaling pathways and their association with Lewy pathology, dopaminergic (DA) neuron loss and stage of PD ...
Yue Jing Heng, Anusha Jayaraman, Richard Reynolds, Jia Nee Foo   +3 more
wiley   +1 more source

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

A review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry. [PDF]

Orphanet J Rare Dis, 2021
Racoma MJC, Calibag MKKB, Cordero CP, Abacan MAR, Chiong MAD.   +4 more
europepmc   +1 more source

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]

, 2017
Austin, Christopher P., Dai, Sheng, Dulcey, Andres E., Hu, Xin, Marugan, Juan, Ory, Daniel S., Porter, Forbes D., Wassif, Christopher A., Zheng, Wei   +8 more
core   +2 more sources

Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis. [PDF]

Case Rep Pathol, 2020
Libbrecht S, Eyskens F, Declercq S, Colpaert C.   +3 more
europepmc   +1 more source