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
Linking park environmental characteristics to child health outcomes: towards an evidence-based child-friendly design framework. [PDF]
Zhu L, Wu L, Xu X, Hu X, Su Y.
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
i-MoMCARE: AI-enabled mobile app for maternal and child health care in Cambodia - a pilot implementation and evaluation study. [PDF]
Goh H +10 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
Journal statistics in 2025, and stewardship, growth, and the future of Child Health Nursing Research. [PDF]
Kim Y.
europepmc +1 more source
Out-of-pocket expenditures on child health during an economic recession in Brazil. [PDF]
Silva MTD +5 more
europepmc +1 more source
Measuring and monitoring child health and well-being-an integral part of the climate change agenda. [PDF]
Requejo JH +8 more
europepmc +1 more source
Addressing equity through integration of child health services in North West London disadvantaged neighbourhoods: a mixed-methods evaluation. [PDF]
Ram B, Ahmad K, Hargreaves D, Blair M.
europepmc +1 more source

