ArticleMolecular genetics and metabolism reports2018
Fourteen new mutations of
Article in Molecular genetics and metabolism reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.BMC medical genomics · 2025Pooled it
- Adenine base editing rescues disrupted BCKDH function and reduces BCAAs toxic accumulation in maple syrup urine disease patient iPSC-hepatic organoids.Stem cell research & therapy · 2025Article
- Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease.Scientific reports · 2024Article
- Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.Orphanet journal of rare diseases · 2024Article
- Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.QJM : monthly journal of the Association of Physicians · 2024Article
- The oral phenotype and dental management in patients with maple syrup urine disease; case report and scoping review.BMC oral health · 2024Article
- Diagnosis of an intermediate case of maple syrup urine disease: A case report.World journal of clinical cases · 2023Article
- Identification of gene mutations in six Chinese patients with maple syrup urine disease.Frontiers in genetics · 2023Article
- Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.Scientific reports · 2021Article
- Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.World journal of pediatrics : WJP · 2020Article
- Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder. This disorder is usually caused by mutations in any one of the genes;
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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.