Identification of eight novel mutations in 11 Chinese  patients with maple syrup urine disease.

CONCLUSIONS: Eight novel mutations were associated with MSUD in Chinese patients. Prenatal diagnosis was successfully performed by genetic analysis. Mutations in the BCKDHB gene were found in the majority of Chinese patients with MSUD.
PMID: 32193832 [PubMed - as supplied by publisher]

Source: World Journal of Pediatrics : WJP - March 18, 2020 Category: Pediatrics Authors: Sun WH, Wu BB, Wang YQ, Wu MY, Dong XR, Zhang YP, Lu W, Zhang P, Yang B, Zhang M, Wu HJ, Zhou WH Tags: World J Pediatr Source Type: research