ArticleJIMD reports2016
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
Article in JIMD reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed, 9 citations in OpenAlex.
- Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia.Molecular and cellular pediatrics · 2026Article
- The Arg108Cys Variant of Methylmalonyl-CoA Mutase: Clinical Implications for the Mexican Population Based on Molecular Dynamics and Docking.International journal of molecular sciences · 2025Article
- Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia.Saudi medical journal · 2020Article
- Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.Molecular genetics and metabolism reports · 2018Article
- Methylmalonic Acidemia with NovelCase reports in genetics · 2017Article
- IDENTIFICATION OF A NOVEL MUTATION IN THE MMAA GENE IN A CHINESE BOY WITH ISOLATED METHYLMALONIC ACIDEMIA.Acta endocrinologica (Bucharest, Romania : 2005)Article
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Defects in the human gene encoding methylmalonyl-CoA mutase enzyme (MCM) give rise to a rare autosomal recessive inherited disorder of propionate metabolism termed mut methylmalonic acidemia (MMA). Patients with mut MMA have been divided into two subgroups: mut
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.