ArticleReports of biochemistry & molecular biology2016
Methylmalonic Acidemia Diagnosis by Laboratory Methods.
Article in Reports of biochemistry & molecular biology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 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
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Who cites it
29 citing papers in PubMed, 41 citations in OpenAlex.
- Untargeted metabolomics reveals distinct metabolic profiles in MUT-type methylmalonic acidemia.Molecular and cellular pediatrics · 2026Article
- Newborn screening for methylmalonic acidemia: insights from a retrospective analysis in Hefei, China.Orphanet journal of rare diseases · 2026Article
- Clinical and Genetic Characterization of Isolated Methylmalonic Acidemia in Malaysian Children: Identification of Two NovelDiagnostics (Basel, Switzerland) · 2026Article
- Modeling Inherited Methylmalonic Acidemia Using Isogenic Human Induced Pluripotent Stem Cell-Derived Hepatocytes with Mutations inmicroPublication biology · 2026Article
- Neonatal-onset cblC-type methylmalonic acidemia combined with homocysteinemia: case report.Frontiers in pediatrics · 2026Article
- Natural Protein-Restricted Diets and Their Impact on Linear Growth in Patients with Propionic and Methylmalonic Acidemia: A Systematic Review.Journal of personalized medicine · 2025Review
- Methylmalonic Acidemia: A Review of Cases in Jordan.Cureus · 2025Article
- Metabolic rerouting of valine and isoleucine oxidation increases survival in zebrafish models of disorders of propionyl-CoA metabolism.Human molecular genetics · 2025Article
- Desensitization for Vitamin B12 Hypersensitivity and How to Do It.Biomedicines · 2025Review
- Clinical spectrum and genetic variation of six patients with methylmalonic aciduria (MMA); a report from Iran.BMC pediatrics · 2024Article
- A novelHeliyon · 2024Article
- Methylmalonic acid in aging and disease.Trends in endocrinology and metabolism: TEM · 2024Review
- Persistent pulmonary hypertension of the newborn due to methylmalonic acidemia: a case report and review of the literature.Journal of medical case reports · 2023Review
- Review
- Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families.Iranian biomedical journal · 2023Article
- Recent research on inherited metabolic diseases in children.Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Review
- Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid.Frontiers in pediatrics · 2022Article
- Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review.Frontiers in genetics · 2022Article
- Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report.BMC pediatrics · 2021Article
- Targetable Pathways for Alleviating Mitochondrial Dysfunction in Neurodegeneration of Metabolic and Non-Metabolic Diseases.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Methylmalonic acidemia (MMA) is usually caused by a deficiency of the enzyme methylmalonyl-CoA mutase (MCM), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cblA, cblB, cblC, cblF, cblD, and cblX), or deficiency of the enzyme methylmalonyl-CoA epimerase. A comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic acid analysis with gas chromatography, enzymatic studies with fibroblast cell culture, and finally, mutation analysis. With biochemical techniques and enzymatic assay the reliable characterization of patients with isolated MMA for mutation analysis can be achieved. Reliable classification of these patients is essential for ongoing and prospective studies on treatments, outcomes, and prenatal diagnoses. This article reviews the diagnostic techniques used to characterize patients with MMA.
Indexed as
Identifiers
28070528PMC5214677W2555082815What 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.