Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients.

Saudi medical journal - 1 Sept 2015

Mohamed Sarar, Hamad Muddathir H, Abu-Amero Khaled K

Abstract excerpt

The aim of this report is to analyze the clinical features, and mutations of the methylmalonyl CoA mutase (MUT) gene in 2 patients with methylmalonic aciduria (MMA) attending King Saud University Medical City, Riyadh, Saudi Arabia in January 2014. The infants aged 6 days (patient 1) and 3 months (patient 2) with sepsis-like picture, metabolic acidosis, and hyperammonemia were presented. Investigations revealed...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Homozygote
Share to Methylmalonyl-CoA Mutase
Share to Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Saudi Arabia

Source

Open in PubMed Open full text

Identifiers

PMID: 26318470
DOI: 10.15537/smj.2015.9.12118
PMCID: PMC4613637

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients.PMID 26318470Read ↗

Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemiaSemantic proximity Read ↗

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency.Semantic proximity Read ↗

Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.Semantic proximity Read ↗

Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants.Semantic proximity Read ↗

Pre-implantation genetic diagnosis in an Iranian family with a novel mutation in MUT gene.Semantic proximity Read ↗

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.Semantic proximity Read ↗

Clinical characteristics and gene mutation analysis of methylmalonic aciduria.Semantic proximity Read ↗

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.Semantic proximity Read ↗

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.Semantic proximity Read ↗

MIS-C, inherited metabolic diseases and methylmalonic acidemia: a case report and review of the literatureSemantic proximity Read ↗

Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening.Semantic proximity Read ↗

Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.