ArticleMolecular genetics and metabolism reports2017
Twenty novel mutations in
Article in Molecular genetics and metabolism reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- 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
- Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.International journal of molecular sciences · 2024Article
- A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population.Molecular biology research communications · 2024Article
- Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.Scientific reports · 2021Article
- Administration of branched-chain amino acids alters epigenetic regulatory enzymes in an animal model of Maple Syrup Urine Disease.Metabolic brain disease · 2021Article
- Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.Orphanet journal of rare diseases · 2020Article
- Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease.Molecular genetics & genomic medicine · 2020Article
- Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.World journal of pediatrics : WJP · 2020Article
- Fourteen new mutations ofMolecular genetics and metabolism reports · 2018Article
- Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data.Molecular genetics and metabolism reports · 2018Article
- Evaluation of plasma biomarkers of inflammation in patients with maple syrup urine disease.Journal of inherited metabolic disease · 2018Article
- Maple syrup urine disease: mechanisms and management.The application of clinical genetics · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Maple syrup urine disease (MSUD), an autosomal recessive inborn error of metabolism due to defects in the branched-chain α-ketoacid dehydrogenase (BCKD) complex, is commonly observed among other inherited metabolic disorders in the kingdom of Saudi Arabia. This report presents the results of mutation analysis of three of the four genes encoding the BCKD complex in 52 biochemically diagnosed MSUD patients originating from Saudi Arabia. The 25 mutations (20 novel) detected spanned across the entire coding regions of the
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.