Results 141 to 150 of about 1,137 (152)

Establishing genetic spectrum of MSUD by screening of BCKDHA, BCKDHB, DLD and DBT in different ethnic groups of Azerbaijan population

Asian Journal of Agriculture and Biology
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[Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].

Zhonghua er ke za zhi = Chinese journal of pediatrics, 2015
Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disorder that is caused by mutations in the subunits of the branched chain α-ketoacid dehydrogenase (BCKD) complex. This report presents a Han ethnic Chinese newborn infant with the severe classic form of MSUD caused by two novel missense mutations in the BCKDHB gene.The clinical and ...
Yunlin, Shen, Xiaohui, Gong, Jingbin, Yan, Li, Qin, Gang, Qiu   +4 more
openaire   +1 more source

[A classic case with maple syrup urine disease caused by compound heterozygous mutations of BCKDHB gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2019
To explore the genetic etiology of a patient with classic maple syrup urine disease (MSUD).Next-generation sequencing (NGS) was used to screen the exons of BCKDHA, BCKDHB, DBT and DLD genes. Suspected mutations were verified by Sanger sequencing. Bioinformatic analysis was carried out to predict the influence of mutations on the protein structure and ...
Dongpo, Song, Wenjie, Li, Chaoping, Wei, Weiqing, Wang, Jinfeng, Lyu   +4 more
openaire   +1 more source

BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease

Science Translational Medicine
Classic maple syrup urine disease (MSUD) results from biallelic mutations in genes that encode the branched-chain α-ketoacid dehydrogenase E1 α ( BCKDHA ), E1 β ( BCKDHB ), or dihydrolipoamide branched-chain transacylase (
Jiaming Wang, Laura E. Poskitt, Jillian Gallagher, Erik G. Puffenberger, R. Max Wynn, Gauri Shishodia, David T. Chuang, Jonathan Beever, Donald L. Hardin, Karlla W. Brigatti, William C. Baker, Rachael Gately, Stephanie Bertrand, Ashlin Rodrigues, Hector R Benatti, Toloo Taghian, Erin Hall, Rachel Prestigiacomo, Jialing Liang, Gong Chen, Xuntao Zhou, Lingzhi Ren, Nan Liu, Ran He, Qin Su, Jun Xie, Zhong Jiang, Alisha Gruntman, Heather Gray-Edwards, Guangping Gao, Kevin A. Strauss, Dan Wang   +31 more
openaire   +2 more sources

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
Mahboobeh Faramin Lashkarian, Hamzeh Salmani   +1 more
openaire   +1 more source

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Frontiers in Genetics, 2018
Dingyuan Ma, Chunyu Luo
exaly  

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
exaly  

Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease

Journal of Pediatric Endocrinology and Metabolism, 2018
Negin Taghehchian, Alireza Tafazoli, Massoud Houshmand   +2 more
exaly  

TWO NEW MUTATIONS IDENTIFIED IN AZERBAIJAN: THE GENE BCKDHB 508 (C-T) AND THE GENE DBT 1199 (A-G) IN A HOMOZYGOUS STATE IN TWO FAMILIES WITH MSUD DIAGNOSIS

2017
Huseynova , L S, Rasulov , E M, Aliyeva, K A, Khalilov, R I   +3 more
openaire   +1 more source

Molecular genetic analysis of MSUD from India reveals mutations causing altered protein truncation affecting the C-termini of E1α and E1β

Journal of Cellular Biochemistry, 2012
Ashwin Dalal, Murali Dharan Bashyam, H A Nagarajaram   +2 more
exaly