Noha Elserafy
A5075146221- Dialysis and Renal Disease Management
- Erythropoietin and Anemia Treatment
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Iron Metabolism and Disorders
- Glycosylation and Glycoproteins Research
- Biochemical and Molecular Research
- ATP Synthase and ATPases Research
- PI3K/AKT/mTOR signaling in cancer
- Neonatal Health and Biochemistry
- Cardiac Fibrosis and Remodeling
- Hippo pathway signaling and YAP/TAZ
- Neuroscience and Neuropharmacology Research
- Cardiovascular Function and Risk Factors
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Cellular transport and secretion
- Ion channel regulation and function
- Folate and B Vitamins Research
- Blood transfusion and management
- Endoplasmic Reticulum Stress and Disease
- Protein Kinase Regulation and GTPase Signaling
- Genomics and Rare Diseases
Liverpool Hospital
2022-2024
New South Wales Department of Health
2024
Genomics (United Kingdom)
2024
John Wiley & Sons (United States)
2024
Westmead Hospital
2022-2023
Sydney Children’s Hospitals Network
2021
Children's Hospital at Westmead
2015-2021
PurposeBiallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants.MethodsSynthesis of clinical and molecular data concerning 34 five previously reported 12 novel variants, 11 which were functionally characterized.ResultsAmong individuals, only 6 remain...
Abstract Background Inborn errors of metabolism (IEM) are a diverse group genetic disorders that can result in significant morbidity and sometimes death. Metabolic management be challenging burdensome for families. Liver transplantation (LT) is increasingly being considered treatment option some IEMs. IEMs now the second most common reason pediatric LT. Aim To review data all children with an IEM who had LT at The Children's Hospital Westmead (CHW), NSW, Australia between January 1986 2019....
Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory their dysfunction responsible brain disorders, such as epilepsy. To date,