Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease-Reference-Cited by-同舟云学术

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Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease

Published:2017-02-15 Issue:3 Volume:32 Page:765-772
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Su Ling,Lu Zhikun,Li Fatao,Shao Yongxian,Sheng Huiying,Cai Yanna,Liu Li

Funder

Health and Family planning Commission of Guangzhou Municipality

National “Twelfth Five-Year” Plan for Science and Technology

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-017-9959-6/fulltext.html

Reference25 articles.

1. Axler O, Holmquist P (2014) Intermittent maple syrup urine disease: two case reports. Pediatrics 133:e458–e460. doi: 10.1542/peds.2013-0427

2. Bashyam MD et al. (2012) Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1alpha and E1beta. J Cell Biochem 113:3122–3132 doi: 10.1002/jcb.24189

3. Chuang JL et al (2004) Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype. J Biol Chem 279:17792–17800. doi: 10.1074/jbc.M313879200

4. Couce ML et al (2015) Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis. Eur J Paediatr Neurol: EJPN: official journal of the European Paediatric Neurology Society 19:652–659. doi: 10.1016/j.ejpn.2015.07.009

5. Edelmann L, Wasserstein MP, Kornreich R, Sansaricq C, Snyderman SE, Diaz GA (2001) Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population. Am J Hum Genet 69:863–868. doi: 10.1086/323677

Cited by 9 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. Identification of a novel homozygous mutation of the BCKDHB gene in an Iranian patient with maple syrup disease using next-generation sequencing;Human Gene;2023-05

2. Diagnosis of an intermediate case of maple syrup urine disease: A case report;World Journal of Clinical Cases;2023-02-16

3. Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population;Scientific Reports;2021-09-23

4. Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease;World Journal of Pediatrics;2020-03-19

5. Identification of six novel mutations in five infants with suspected maple syrup urine disease based on blood and urine metabolism screening;Gene;2019-08

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