Results 81 to 90 of about 145,125 (343)
Severe COVID-19 in the young and healthy: monogenic inborn errors of immunity?
Nature reviews. Immunology, 2020 Severe COVID-19 is rare in previously healthy individuals who are less than 50 years of age, affecting probably no more than 1 in 1,000 such infected individuals. We suggest that these patients may become critically ill because of monogenic inborn errors
Shen-Ying Zhang +9 more
semanticscholar +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Scientific Reports, 2017 Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes +4 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Mutations in myelin regulatory factor (MYRF) are linked to demyelinating disorders. We report a 38‐year‐old male who developed acute symmetric leukoencephalopathy mimicking a stroke following an influenza A virus infection. While clinical symptoms markedly improved with corticosteroids, MRI revealed persistent white matter lesions, contrasting
Jinghan Hu +5 more
wiley +1 more source
Citrulline in the management of patients with urea cycle disorders
Orphanet Journal of Rare Diseases, 2023 Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through the urea ...
Apolline Imbard +10 more
doaj +1 more source
No-one is Unmusical:Elizabeth, Everyday Cheermongery, and Active Musical Citizenship [PDF]
, 2011 Everyday cheermongers spread positive emotion through social contagion. This capability is illustrated here through a portrait of Elizabeth, a ‘Suzuki method’ violin teacher in Edinburgh.
Thin, Neil
core +2 more sources
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Neuromyelitis Optica Spectrum Disorder (NMOSD) is a chronic autoimmune neuroinflammatory disease, typically characterized by antibodies against aquaporin 4 (AQP4‐IgG) or myelin oligodendrocyte glycoprotein (MOG‐IgG). Simultaneous seropositivity for both antibodies in a single patient is exceedingly rare.
Yeting Luo, Shuhua Xie, Xianghong Liu
wiley +1 more source
Universitas Scientiarum, 2016 β-hexosaminidases (Hex) are dimeric enzymes involved in the lysosomal degradation of glycolipids and glycans. They are formed by α- and/or β-subunits encoded byHEXA and HEXB genes, respectively.
Angela Johana Espejo Mojica +7 more
doaj +1 more source