Publications by authors named "Walaa El Naggar"
Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor pathogenic variants that can produce a broad spectrum of mitochondrial diseases. This work aims to explore the genetic etiology of a cohort of Egyptian pediatric patients who were clinically suspected of having a mitochondrial disorder.
View Article and Find Full Text PDFCerebral folate transport deficiency due to folate receptor 1 gene (FOLR1) gene mutation results from impaired folate transport across the blood: choroidplexus: cerebrospinal fluid (CSF) barrier. This leads to low CSF 5-methyltetrahydrofolate, the active folate metabolite. We are reporting two children with this treatable cerebral folate transport deficiency.
View Article and Find Full Text PDFArticle Synopsis
- Developmental regression in children refers to the loss of previously acquired skills and is linked to neurodegenerative diseases, such as leukodystrophy and neuronal ceroid lipofuscinosis (NCLs).
- The study analyzed 763 Egyptian children, aged 1 to 11 years, primarily diagnosed with developmental issues, using whole exome sequencing to identify genetic causes and support diagnosis.
- Results indicated that 726 children were early diagnosed, with various conditions identified, including 28 confirmed NCLs, highlighting the importance of next-generation sequencing for faster and more accurate diagnoses and family counseling.