BCKDHB基因中的两个新突变导致中间型枫糖尿症。 - Suppr

Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease.

作者信息

Zhu Hui, Zhong Yi, Zhu Shuyao

机构信息

Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, Sichuan, China.

Department of Pediatrics, Zigong First People's Hospital, Zigong, Sichuan, China.

出版信息

Ann Indian Acad Neurol. 2024 Nov 1;27(6):729-731. doi: 10.4103/aian.aian_324_24. Epub 2024 Oct 4.

DOI:10.4103/aian.aian_324_24

PMID:39363617

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11745236/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99a9/11745236/146d5dc14eac/AIAN-27-729-g001.jpg

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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.

Int J Neonatal Screen. 2021 May 14;7(2):25. doi: 10.3390/ijns7020025.

Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.

Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16.

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Pediatr Neonatol. 2018 Oct;59(5):515-519. doi: 10.1016/j.pedneo.2018.01.006. Epub 2018 Jan 6.

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Metab Brain Dis. 2015 Dec;30(6):1395-400. doi: 10.1007/s11011-015-9711-z. Epub 2015 Aug 4.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

Tp-e interval, Tp-e/QT ratio, and Tp-e/QTc ratio are prolonged in patients with moderate and severe obstructive sleep apnea.

Pacing Clin Electrophysiol. 2012 Aug;35(8):966-72. doi: 10.1111/j.1540-8159.2012.03439.x. Epub 2012 Jun 5.

Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.

Hum Mutat. 2003 Nov;22(5):417. doi: 10.1002/humu.9187.

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Two Novel Mutations in the BCKDHB Gene Cause Intermediate Maple Syrup Urine Disease.

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