ArticleMolecular genetics and metabolism reports2015
Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease.
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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.
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Who cites it
7 citing papers in PubMed, 13 citations in OpenAlex.
- Early laboratory indicators of acute metabolic decompensation during emergency presentations in pediatric maple syrup urine disease.European journal of pediatrics · 2026Article
- Application of high-resolution mass spectrometry profiling towards the diagnosis and acute management of maple syrup urine disease.Molecular genetics and metabolism reports · 2025Article
- Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.Orphanet journal of rare diseases · 2025Review
- Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.American journal of medical genetics. Part A · 2022Article
- Maple syrup urine disease decompensation misdiagnosed as a psychotic event.Molecular genetics and metabolism reports · 2022Article
- Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease.Frontiers in pediatrics · 2022Article
- Maple syrup urine disease: mechanisms and management.The application of clinical genetics · 2017Review
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Acute metabolic decompensation in maple syrup urine disease can occur during intercurrent illness and is a medical emergency. A handful of reports in the medical literature describe the use of peritoneal dialysis and haemodialysis as therapeutic inventions. We report the only patient from our centre to have haemodialysis performed in this setting. Combined with dietary BCAA restriction and calorific support, haemodialysis allows rapid reduction in plasma leucine concentrations considerably faster than conservative methods.
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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.