Results 91 to 100 of about 526,044 (282)
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Progress in Fishery SciencesBranched chain amino acids (BCAAs) are neutral amino acids containing branched aliphatic chains on the α-carbon, including leucine (Leu), isoleucine, and valine (Val), accounting for 18%–20% of the total amino acids in animal and plant proteins.
Guofeng LU +6 more
doaj +1 more source
Treatment of maple syrup urine disease with high flow hemodialysis in a neonate
The Turkish Journal of Pediatrics, 2019 Continious renal replacement therapy (CRRT) is a well recognizied treatment of choice in acute renal failure, however CRRT became a preferred treatment of metabolic emergencies with high leucine and ammonia levels like Maple syrup urine disease (MSUD ...
Fatih Aygün +4 more
doaj +1 more source
Degrees of freedom effect on fragmentation in tandem mass spectrometry of singly charged supramolecular aggregates of sodium sulfonates [PDF]
, 2013 The characteristic collision energy (CCE) to obtain 50% fragmentation of positively and negatively single charged non-covalent clusters has been measured.
Bongiorno, David +7 more
core +2 more sources
A Systematic Review and Meta‐Analysis of the Recurrence of Autoimmune Encephalitis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Autoimmune encephalitis (AE) is a disease with a potential for recurrence, and patients receive immunotherapy to prevent it. However, there is no consensus on the duration of immunotherapy. This study aimed to determine the recurrence rate and identify the risk factors for AE to provide guidance on the duration of immunotherapy ...
Shangkai Bai +5 more
wiley +1 more source
MicroorganismsNatural astaxanthin is in high demand due to its multiple health benefits. The microalga Haematococcus lacustris has been used for the commercial production of astaxanthin.
Vijay Rayamajhi +10 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT The Clinical Assessment Scale in Autoimmune Encephalitis (CASE) tracks disease severity in autoimmune encephalitis (AE), but no threshold for significant change exists. We aimed to determine the minimally clinically important difference (MCID) for CASE.
Yihui Goh +8 more
wiley +1 more source
Zhongguo linchuang yanjiuIn the tumor microenvironment, amino acids are important nutrients constituting immune cells and tumor cells. Some proteins or key enzymes in the metabolism process are expected to become tumor diagnostic markers or therapeutic targets. It was found that
YI Manting*, LI Dongfang
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Inhibition of the mitochondrial pyruvate carrier protects from excitotoxic neuronal death. [PDF]
, 2017 Glutamate is the dominant excitatory neurotransmitter in the brain, but under conditions of metabolic stress it can accumulate to excitotoxic levels.
Andreyev, Alexander Y +12 more
core +1 more source