Associated Papers
Methylmalonic acidemia with recurrent hemophagocytic lymphohistiocytosis: a case report and review of the literature.
Yamashita F et al.
Bmc Pediatrics, 2025
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
Molecular autopsy by proxy in preconception counseling.
Ali Alghamdi M et al.
Clinical Genetics, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.
Habibzadeh P et al.
Bmc Medical Genetics, 2020
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center.
Tanacan A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Characterization of mutations in Escherichia coli PBP2 leading to increased carbapenem MICs.
Lange F et al.
The Journal of Antimicrobial Chemotherapy, 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
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
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