Detection of mutations in the glycine decarboxylase gene in patients with nonketotic hyperglycinaemia
- 1 February 2005
- journal article
- case report
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 84 (2) , 167-171
- https://doi.org/10.1016/j.ymgme.2004.10.001
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- Glycine encephalopathy (nonketotic hyperglycinaemia): Review and updateJournal of Inherited Metabolic Disease, 2004
- Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)Molecular Genetics and Metabolism, 2002
- Denaturing high-performance liquid chromatography: A reviewHuman Mutation, 2001
- Biochemical and Molecular Investigations of Patients with Nonketotic HyperglycinemiaMolecular Genetics and Metabolism, 2000
- Human glycine decarboxylase gene ( GLDC) and its highly conserved processed pseudogene ( ψ GLDC) : their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemiaHuman Genetics, 2000
- Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia.Journal of Clinical Investigation, 1992
- Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: Three-base deletion in mRNA causes nonketotic hyperglycinemiaBiochemical and Biophysical Research Communications, 1991
- One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5′ region in a patient with nonketotic hyperglycinemiaBiochemical and Biophysical Research Communications, 1990
- Nonketotic hyperglycinemia: Analyses of glycine cleavage system in typical and atypical casesThe Journal of Pediatrics, 1987