Associated Papers
Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.
Hassaan HM et al.
American Journal of Medical Genetics. Part A, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.
Manzoni E et al.
Brain Communications, 2024
Patterns and unique features of infantile cholestasis among Arabs.
Al-Hussaini A et al.
Frontiers in Pediatrics, 2024
Mitochondrial depletion syndrome type 3: the Lebanese variant.
Majdalani M et al.
Frontiers in Genetics, 2023
Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
Guzman H et al.
Frontiers in Endocrinology, 2023
A Combined Model of Human iPSC-Derived Liver Organoids and Hepatocytes Reveals Ferroptosis in DGUOK Mutant mtDNA Depletion Syndrome.
Guo J et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2021
Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.
Bravo-Alonso I et al.
Journal of Clinical Medicine, 2019
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.
Fang W et al.
Oncotarget, 2017
Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia.
Mohamed S et al.
Pediatrics and Neonatology, 2015
Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome.
Cámara Y et al.
Human Molecular Genetics, 2014
Mitochondrial depletion syndromes in children and adults.
Finsterer J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2013
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Navarro-Sastre A et al.
Molecular Genetics and Metabolism, 2012
Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.
Pronicka E et al.
Journal of Applied Genetics, 2011
Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).
Poulton J et al.
Biochimica Et Biophysica Acta, 2009
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Dimmock DP et al.
Human Mutation, 2008
Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.
Mousson de Camaret B et al.
The Biochemical Journal, 2007