Disease: Maple syrup urine disease- type 1A
- Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population
- Diagnosis of inborn errors of metabolism
- Early experiences with the use of continuous erector spinae plane blockade for the provision of perioperative analgesia for pediatric liver transplant recipients
- Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases
- Identification of a novel homozygous mutation (S144I) in a Malay patient with maple syrup urine disease
- Maple syrup urine disease hair reveals the importance of 18-methyleicosanoic acid in cuticular delamination
- Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example