Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease-Reference-Cited by-同舟云学术

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Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease

Published:2018-01-06 Issue:3 Volume:33 Page:741-751
ISSN:0885-7490
Container-title:Metabolic Brain Disease
language:en
Short-container-title:Metab Brain Dis

Author:

Li Xiaomei,Yang Yali,Gao Qing,Gao Min,Lv Yvqiang,Dong Rui,Liu Yi,Zhang Kaihui,Gai Zhongtao

Funder

Natural Science Training Foundation of Shandong Province

Jinan Excellent Science and Technology Innovation Team Project

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry

Link

http://link.springer.com/article/10.1007/s11011-017-0168-0/fulltext.html

Reference21 articles.

1. Abiri M, Karamzadeh R, Karimipoor M, Ghadami S, Alaei MR, Bagheri SD, Bagherian H, Setoodeh A, Noori-Daloii MR, Sirous Z (2016) Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis. Mutat Res 786:34–40. https://doi.org/10.1016/j.mrfmmm.2016.01.005

2. Abiri M, Karamzadeh R, Mojbafan M, Alaei MR, Jodaki A, Safi M, Kianfar S, Bandehi Sarhaddi A, Noori-Daloii MR, Karimipoor M, Zeinali S (2017) In silico analysis of novel mutations in maple syrup urine disease patients from Iran. Metab Brain Dis 32(1):105–113. https://doi.org/10.1007/s11011-016-9867-1

3. Al-Shamsi A, Baker A, Dhawan A, Hertecant J (2016) Acute metabolic crises in maple syrup urine disease after liver transplantation from a related heterozygous living donor. JIMD Rep 30:59–62. https://doi.org/10.1007/8904_2016_532

4. Burrage LC, Nagamani SC, Campeau PM, Lee BH (2014) Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders. Hum Mol Genet 23(R1):R1–R8. https://doi.org/10.1093/hmg/ddu123

5. Guo Y, Liming L, Jiang L (2015) Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease. Metab Brain Dis 30(6):1395–1400. https://doi.org/10.1007/s11011-015-9711-z

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1. Identification of gene mutations in six Chinese patients with maple syrup urine disease;Frontiers in Genetics;2023-02-24

2. Reactive and Responsive Polymers for Sensing Applications in Bodily Fluids;Macromolecular Engineering;2022-03-04

3. Screening of gene detection of monogenic inherited disorder in an infertile population in Henan Province: an autosomal recessive disorder carried by maple syrup urine disease;Endokrynologia Polska;2022-01-31

4. Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease;Journal of Pediatric Endocrinology and Metabolism;2021-12-10

5. 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

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