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
Estimation of Sound Transmission Loss for Elastic Closed-Cell Porous Material in Mass Control Region [PDF]
Jun Cai, Yining Yang, Xu Lin, Junyu Zhou
openalex +1 more source
Crystallinity versus mass-loss rate in asymptotic giant branch stars [PDF]
F. Kemper +3 more
openalex +1 more source
A Two‐Stage Questionnaire and Actigraphy Screening for iRBD in a Multicenter Retrospective Cohort
ABSTRACT Objective Isolated rapid‐eye‐movement sleep behavior disorder is a prodromal marker of synucleinopathies. However, most cases remain undiagnosed due to the insufficient predictive value of questionnaires and limited access to confirmatory video‐polysomnography. We assessed a two‐stage screening strategy combining a brief questionnaire on rapid‐
Caleb A. Massimi +17 more
wiley +1 more source
Photolytic Mass Loss of Secondary Organic Aerosol Derived from Photooxidation of Biomass Burning Furan Precursors. [PDF]
Shin N +5 more
europepmc +1 more source
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Estimation of mass loss under wear test of nanoclay-epoxy nanocomposite using response surface methodology and artificial neural networks. [PDF]
Shettar M, Bhat A, Katagi NN.
europepmc +1 more source
Relativistic cross sections of mass loss of a star tidally disrupted by a super-massive rotating black hole [PDF]
P. B. Ivanov, M. Chernyakova
openalex
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 more
wiley +1 more source
Durability of Basalt- and Glass Fiber-Reinforced Polymers: Influence of Internal Stresses, Mass Loss Modeling, and Mechanical/Thermomechanical Properties Under Extreme Cold Climate Exposure. [PDF]
Kychkin AK +5 more
europepmc +1 more source

