Exploring the Potential of Matching-to-Sample-Based Training Protocols to Enhance Language Abilities in Individuals with Language Impairments: A Scoping Review. [PDF]
Maes JHR +3 more
europepmc +1 more source
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
Opportunities and challenges in patient-led research in India. [PDF]
Paul M +8 more
europepmc +1 more source
Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito +8 more
wiley +1 more source
Speech Perception Development From Childhood to Adulthood Following Pediatric Cochlear Implantation: A 30-year Longitudinal Study. [PDF]
Kao C +12 more
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
Computer‐Assisted Language Testing
Ruslan Suvorov, Volker Hegelheimer
semanticscholar +1 more source
Common TF-IDF variants arise as key components in the test statistic of a penalized likelihood-ratio test for word burstiness. [PDF]
Ahmed Z +3 more
europepmc +1 more source

