Associated Papers
Integrated multi-omics reveals anaplerotic rewiring in methylmalonyl-CoA mutase deficiency.
Forny P et al.
Nature Metabolism, 2023
36717752 (PubMed )
Supplement: 42255_2022_720_MOESM1_ESM.pdf
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
Habibzadeh P et al.
Bmc Medical Genetics, 2020
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism.
Porta F et al.
Journal of Pediatric Gastroenterology and Nutrition, 2019
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center.
Tanacan A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Forny P et al.
Human Mutation, 2016
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
Imtiaz F et al.
Jimd Reports, 2016
Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients.
Mohamed S et al.
Saudi Medical Journal, 2015
Select a paper to view details