Results 211 to 220 of about 56,286 (316)

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

, 2013
Jayesh Sheth, Mehul Mistri, Frenny Sheth, Raju Shah, Ashish Bavdekar, Koumudi Godbole, Nidhish Nanavaty, Chaitanya Datar, Mahesh Kamate, Nrupesh Oza, Chitra Ankleshwaria, Sanjeev Mehta, Marie Jackson   +12 more
openalex   +2 more sources

207. In Vivo Assessment of the Efficacy of Gene Therapy Targeted to Diseased Human Hematopoietic Progenitor Cells in a Xenotransplantable Murine Model of a Lysosomal Storage Disorder [PDF]

, 2003

openalex   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China. [PDF]

Genome Med
Wang X, Sun Y, Guan XW, Wang YY, Hong DY, Zhang ZL, Li YH, Yang PY, Jiang T, Xu ZF.   +9 more
europepmc   +1 more source

Autologous, lentivirus-modified, T-rapa cell "micropharmacies" for lysosomal storage disorders. [PDF]

EMBO Mol Med, 2022
Nagree MS, Felizardo TC, Faber ML, Rybova J, Rupar CA, Foley SR, Fuller M, Fowler DH, Medin JA.   +8 more
europepmc   +1 more source

Induced pluripotent stem cell models of lysosomal storage disorders [PDF]

, 2017
Daniel K. Borger, Benjamin H. McMahon, Tamanna Roshan Lal, Jenny Serra‐Vinardell, Elma Aflaki, Ellen Sidransky   +5 more
openalex   +1 more source

Advanced extracellular vesicle immunotherapy

FlexMat, EarlyView.
A diagrammatic depiction of the therapeutic applicability of extracellular vesicles (EVs) in immunotherapy. This review explores the dual roles of tumor‐derived and immune cell‐derived EVs in cancer immunotherapy, discusses recent progress in EV engineering that improve their clinical utility, and evaluates their potential to augment existing ...
Jingjing Zhang, Yunfei Mu, Xianyue Ji, Xiaoting Jiang, Ruiheng Wang, Xianguang Ding, Lianhui Wang   +6 more
wiley   +1 more source

Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management. [PDF]

JIMD Rep
Terrell A, Sapp K, Graham B, McPheron M, Wetherill L.   +4 more
europepmc   +1 more source

Pathogenic mycobacteria achieve cellular persistence by inhibiting the Niemann-Pick Type C disease cellular pathway [version 1; referees: 2 approved, 2 approved with reservations] [PDF]

, 2016
et al,, Ory, Daniel S
core   +1 more source

Endometrial Stromal Cell Senescence: A Non‐Negligible Factor in Recurrent Pregnancy Loss

iMetaMed, EarlyView.
As populations age, links between female reproductive aging and infertility are increasingly evident. Cellular senescence, characterized by near‐irreversible cell‐cycle arrest and accumulation of damage, can impair tissue function. In the endometrium, aberrant senescence of endometrial stromal cells (EnSCs) may compromise receptivity, hinder embryo ...
Shuang Wu, Cenlan Bu, Qinzheng Xu, Xi Cheng, Junrong Zhang, Jinling Chen, Yun‐Zhao Xu   +6 more
wiley   +1 more source