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
A commentary on measles vaccine in the context of outbreaks: Viral evolution, waning immunity and public trust. [PDF]
Equils O, Kuliyev T, Hoang A, Tafuri S.
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
Phylogenetic Analysis of Highly Pathogenic Avian Influenza H7 Viruses in Australia and New Zealand Suggests Local Viral Evolution. [PDF]
Silaban J +5 more
europepmc +1 more source
Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang +4 more
wiley +1 more source
Genomic characterization of novel bat kobuviruses in Madagascar: Implications for viral evolution and zoonotic risk. [PDF]
Gonzalez FL +10 more
europepmc +1 more source
SARS-CoV-2 in an immunocompromised host: convalescent plasma therapy and viral evolution elucidated by whole genome sequencing. [PDF]
Seth-Smith H +3 more
europepmc +1 more source
Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier +3 more
wiley +1 more source
Epitope-Specific Antibody Immunodominance Driving Antibody and Influenza Viral Evolution During 2010- 2024. [PDF]
Lu X +7 more
europepmc +1 more source
Detection of Ancient Viruses and Long-Term Viral Evolution. [PDF]
Nishimura L +3 more
europepmc +1 more source

