Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation-Reference-Cited by-同舟云学术

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Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation

Published:2010-08 Issue:4 Volume:100 Page:324-332
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Brodtkorb Else,Strand Janne,Backe Paul Hoff,Lund Anne Marie,Bjørås Magnar,Rootwelt Terje,Rootwelt Helge,Woldseth Berit,Eide Lars

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference30 articles.

1. Lessons from genetic disorders of branched-chain amino acid metabolism;Chuang;J. Nutr.,2006

2. On the mechanisms of the formation of l-alloisoleucine and the 2-hydroxy-3-methylvaleric acid stereoisomers from l-isoleucine in maple syrup urine disease patients and in normal humans;Mamer;J. Biol. Chem.,1992

3. Significance of l-alloisoleucine in plasma for diagnosis of maple syrup urine disease;Schadewaldt;Clin. Chem.,1999

4. A novel branched-chain amino acid metabolon: protein–protein interactions in a supramolecular complex;Islam;J. Biol. Chem.,2007

5. Regulation of the activity of branched-chain 2-oxo acid dehydrogenase (BCODH) complex by binding BCODH kinase;Obayashi;FEBS Lett.,2001

Cited by 11 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. Fasting and non‐fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease;JIMD Reports;2023-07-14

2. 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

3. Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses;International Journal of Neonatal Screening;2020-06-27

4. Two novel mutations in the BCKDHB gene that cause maple syrup urine disease;Pediatrics & Neonatology;2018-10

5. Identification of mutations, genotype–phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients;European Journal of Medical Genetics;2015-09

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