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
CRACK ONSET FROM A CIRCULAR CAVITY UNDER INTERNAL PRESSURE AND REMOTE BIAXIAL LOADING [PDF]
A. Sapora +3 more
core
Structural Integrity Enhancement and Sustainable Machining Process Optimization for Anti-Lock Braking System Hydraulic Valve Blocks. [PDF]
Rusu AN, Dumitrascu DI, Dumitrascu AE.
europepmc +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
The kinesin-4 protein KIF27 forms a cytoskeletal scaffold at the transition zone to promote motile cilia structural integrity. [PDF]
Park H +19 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
4-Methylesculetin improves the growth performance of grass carp (<i>Ctenopharyngodon idella</i>) by enhancing the proliferation and structural integrity of the intestinal epithelium. [PDF]
Zhang J +10 more
europepmc +1 more source
Enhancing structural integrity of magnesium with hydroxyapatite and tantalum reinforcement. [PDF]
Ayalewu TS, Alemu AG, Wassie HM.
europepmc +1 more source
The sequence and structural integrity of the SARS-CoV-2 Spike protein transmembrane domain is crucial for viral entry. [PDF]
Ortiz-Mateu J +7 more
europepmc +1 more source
The structural integrity of human TFF1 under reducing conditions. [PDF]
Elmaci DN +4 more
europepmc +1 more source

