Associated Papers
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D et al.
Hepatology (baltimore, Md.), 2024
Molecular autopsy by proxy: relevance for genetic counseling in rare genetic disorders.
Skrypnyk C et al.
Frontiers in Genetics, 2024
Patterns and unique features of infantile cholestasis among Arabs.
Al-Hussaini A et al.
Frontiers in Pediatrics, 2024
Drosophila Mpv17 forms an ion channel and regulates energy metabolism.
Corrà S et al.
Iscience, 2023
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.
Vara R et al.
Journal of Inherited Metabolic Disease, 2023
Fulminant Neonatal Liver Failure in MPV 17-Related Mitochondrial DNA Depletion Syndrome.
Abduljalil R et al.
Case Reports in Hepatology, 2023
MPV17-related Hepatocerebral Mitochondrial DNA Depletion Syndrome.
Hong KT et al.
The Korean Journal of Gastroenterology = Taehan Sohwagi Hakhoe Chi, 2021
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW et al.
Human Mutation, 2018
Diagnosis of monogenic liver diseases in childhood by next-generation sequencing.
Stalke A et al.
Clinical Genetics, 2018
Pathological alleles of MPV17 modeled in the yeast Saccharomyces cerevisiae orthologous gene SYM1 reveal their inability to take part in a high molecular weight complex.
Gilberti M et al.
Plos One, 2018
Nucleotide pools dictate the identity and frequency of ribonucleotide incorporation in mitochondrial DNA.
Berglund AK et al.
Plos Genetics, 2017
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini A et al.
The Journal of Pediatrics, 2014
Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene.
Uusimaa J et al.
European Journal of Human Genetics : Ejhg, 2014
Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population.
Ben-Rebeh I et al.
Genetic Testing and Molecular Biomarkers, 2012
The phosphorescence oxygen analyzer as a screening tool for disorders with impaired lymphocyte bioenergetics.
Al-Jasmi F et al.
Molecular Genetics and Metabolism, 2011
A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.
Sarkhy AA et al.
Annals of Saudi Medicine, 0