ReviewMetabolic brain disease2022
Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments.
Review in Metabolic brain disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 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
16 citing papers in PubMed, 19 citations in OpenAlex.
- Prolonged In Vitro Exposure to Methylmalonic Acid Induces Inflammation, Glutamate Metabolism Disruption, and Alters Functional Gene Expression in C6 Astroglial Cells.Neurotoxicity research · 2026Article
- [Occurrence status and treatment strategies of abnormal growth and development in children with methylmalonic acidemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Review
- Animal models of methylmalonic acidemia: insights and challenges.Orphanet journal of rare diseases · 2025Review
- Comment on: "An Early Cost-Utility Model of mRNA-Based Therapies for the Treatment of Methylmalonic and Propionic Acidemia in the United Kingdom".Clinical drug investigation · 2025Article
- Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.Scientific reports · 2025Article
- Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.Pediatric research · 2025Article
- Correlation between toxic organic acid fluctuations and neurodevelopment in patients with methylmalonic acidemia.Orphanet journal of rare diseases · 2025Article
- Long-term neurodevelopmental outcomes following liver transplantation for metabolic disease-a single centre experience.Journal of inherited metabolic disease · 2025Article
- Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.BMC pediatrics · 2024Article
- Isolated methylmalonic acidemia in Mexico: Genotypic spectrum, report of two novel MMUT variants and a possible synergistic heterozygosity effect.Molecular genetics and metabolism reports · 2024Article
- Associations between elevated uric acid and brain imaging abnormalities in pediatric patients with methylmalonic acidemia under 5 years of age.Scientific reports · 2024Article
- Long-term clinical outcomes and health-related quality of life in patients with isolated methylmalonic acidemia after liver transplantation: experience from the largest cohort study in China.World journal of pediatrics : WJP · 2024Article
- A novelHeliyon · 2024Article
- Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study.Molecular genetics and metabolism reports · 2023Article
- Methylmalonic acidemia: Neurodevelopment and neuroimaging.Frontiers in neuroscience · 2023Review
- Neurocognitive assessment platform for clinical trials in PKU: White paper developed by the NPKUA neurocognitive workgroup.Molecular genetics and metabolismArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic acidemia (MMA) due to methylmalonyl-CoA mutase deficiency (OMIM #251,000) is an autosomal recessive disorder of organic acid metabolism associated with life-threatening acute metabolic decompensations and significant neuropsychological deficits. "Isolated" MMA refers to the presence of excess methylmalonic acid without homocysteine elevation. Belonging to this class of disorders are those that involve complete deficiency (mut
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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.