Results 111 to 120 of about 27,015 (306)
A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Penanganan Venting di Kapal Lpg/C Gas Ambalat
Abstraksi, LPG (Liquefied Petroleum Gas) berarti gas minyak bumi yang dicairkan, adalah campuran dari berbagai unsur hidrokarbon yang berasal dari gas alam.
ADE AYU, ANGGRIANI RIYANTI DEWI
core
Modelling of Explosion Venting Fireballs [PDF]
PresentationThe purpose of this study is to compare calculated sizes of explosion venting fireballs to correlations for a range of gas explosions in enclosures fitted with an explosion vent.
O'Hern, Sean C. +5 more
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Research of Emergency Venting Time in Natural Gas Pipeline Accidents with SPS
Gas venting is an important step in the emergency repair of natural gas pipeline accidents. Accurately estimating the gas venting time is of great significance for arranging gas pipeline emergency repair process.
Tingting, Zhu, Liping, Zhang, Yi, Xiong
core +1 more source
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro +14 more
wiley +1 more source
ABSTRACT Introduction/Objective Acute intracranial stenting during endovascular thrombectomy (EVT) for ischemic stroke requires intraprocedural antiplatelet therapy (APT) to maintain patency. However, the hemorrhagic risk of combining APT with intravenous thrombolysis (IVT) remains uncertain.
Aaron Rodriguez‐Calienes +75 more
wiley +1 more source
Filtered venting considerations in the United States
The capability to vent with or without attenuation of fission products exists at some US facilities. In addition, two utilities have proposed enhanced capabilities, and generic enhancements are being considered under a regulatory evaluation of severe ...
Dallman, R. J. +2 more
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