Biochemical and Molecular Investigations of Patients with Nonketotic Hyperglycinemia
- 1 June 2000
- journal article
- research article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 70 (2) , 116-121
- https://doi.org/10.1006/mgme.2000.3000
Abstract
No abstract availableKeywords
This publication has 19 references indexed in Scilit:
- A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemiaJournal of Human Genetics, 1998
- A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemiaHuman Genetics, 1998
- Assignment of the True and Processed Genes for Human Glycine Decarboxylase to 9p23-24 and 4q12Biochemical and Biophysical Research Communications, 1994
- Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemiaHuman Genetics, 1994
- The Glycine Decarboxylase Complex from Plant MitochondriaAnnual Review of Plant Biology, 1994
- Non‐ketotic hyperglycinaemia: Molecular lesion, diagnosis and pathophysiologyJournal of Inherited Metabolic Disease, 1993
- Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.Proceedings of the National Academy of Sciences, 1993
- 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
- Defective glycine cleavage system in nonketotic hyperglycinemia. Occurrence of a less active glycine decarboxylase and an abnormal aminomethyl carrier protein.Journal of Clinical Investigation, 1981