maple syrup urine disease
SaudiVarKB evidence summary derived from retained literature mentions.
15Phenotype mentions
15Publications
4Associated gene records
0Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publicationsNo retained variant associations.
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Saudi Arabia | — | 1 | 1 |
| Population record | — | 1 | 1 |
| Population record | Cohort 10 | 1 | 1 |
| Population record | Cohort 22 | 1 | 1 |
| Population record | Cohort 4,038 | 1 | 1 |
| Population record | Cohort 33 | 1 | 1 |
| Saudi Arabia | Cohort 135 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 56,632 | 1 | 1 |
| Saudi Arabia | Cohort 52 | 1 | 1 |
Supporting publications
15 records- 2026Case Report: Graves' disease in a toddler with maple syrup urine disease: therapeutic challenges and surgical resolution.Frontiers in pediatrics1 mentions
- 2025Unlocking hope: domino liver transplantation for maple syrup syndrome, a single center experience work carried out at the King Fahad Specialist Hospital.Frontiers in immunology1 mentions
- 2025Insights from Metabolomics Profiling of MSUD in Pediatrics Toward Disease Progression.Metabolites1 mentions
- 2025Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.Orphanet journal of rare diseases1 mentions
- 2025Pediatric liver transplant for maple syrup urine disease a single center experience.Frontiers in pediatrics1 mentions
- 2024Successful adult domino living donor liver transplantation in methylmalonic acidemia: case report.Translational gastroenterology and hepatology1 mentions
- 2024Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.International journal of molecular sciences1 mentions
- 2023A Smart Monitoring System for Self-Nutrition Management in Pediatric Patients with Inherited Metabolic Disorders: Maple Syrup Urine Disease (MSUD).Healthcare (Basel, Switzerland)1 mentions
- 2023Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease.Healthcare (Basel, Switzerland)1 mentions
- 2020Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia. A 6-year study.Saudi medical journal1 mentions
- 2020Genotype-phenotype correlation of 33 patients with maple syrup urine disease.American journal of medical genetics. Part A1 mentions
- 2017Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.Molecular genetics and metabolism reports1 mentions
- 2011New and known mutations associated with inborn errors of metabolism in a heterogeneous Middle Eastern population.Saudi medical journal1 mentions
- 2005Diffusion-weighted MR imaging in leukodystrophies.European radiology1 mentions
- 1996Saudi aminoacidemias: a six-year study.Indian journal of pediatrics1 mentions