E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype.
Author:
Publisher
American Society for Clinical Investigation
Subject
General Medicine
Cited by 23 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Pathogenic Homozygous Mutations in the DBT Gene (c.1174A>C) Result in Maple Syrup Urine Disease in a rs12021720 Carrier;Laboratory Medicine;2022-06-03
2. Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease;Clinica Chimica Acta;2021-06
3. Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning;International Journal of Neonatal Screening;2021-05-14
4. Maple syrup urine disease: biochemical, clinical and therapeutic considerations;Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;2020
5. Case report: maple syrup urine disease with a novel DBT gene mutation;BMC Pediatrics;2019-12
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