The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT
Journal Article
Overview
publication date
- January 1, 2017
has subject area
- Alleles
- Amino Acid Oxidoreductases - Glycine Decarboxylase Complex
- Amino Acid Oxidoreductases - Glycine Dehydrogenase (Decarboxylating)
- Brain Diseases - Hyperglycinemia, Nonketotic
- Diagnostic Services - Genetic Testing
- Diagnostic Techniques and Procedures - Genetic Testing
- Enzymes - Aminomethyltransferase
- Enzymes - Dihydrolipoamide Dehydrogenase
- Enzymes - Dihydrolipoamide Dehydrogenase
- Enzymes - Dihydrolipoamide Dehydrogenase
- Enzymes - Glycine Decarboxylase Complex
- Enzymes - Glycine Dehydrogenase (Decarboxylating)
- Exons
- Female
- Flavoproteins - Dihydrolipoamide Dehydrogenase
- Gene Components - Introns
- Genetic Diseases, Inborn - Hyperglycinemia, Nonketotic
- Genetic Diseases, Inborn - Hyperglycinemia, Nonketotic
- Genetic Services - Genetic Testing
- Genetic Techniques - Genetic Testing
- Genome Components - Introns
- Genotype
- Glycine
- Humans
- Hydroxymethyl and Formyl Transferases - Aminomethyltransferase
- Investigative Techniques - Genetic Testing
- Ketone Oxidoreductases - Dihydrolipoamide Dehydrogenase
- Male
- Metabolic Diseases - Hyperglycinemia, Nonketotic
- Metabolic Diseases - Hyperglycinemia, Nonketotic
- Metabolic Diseases - Hyperglycinemia, Nonketotic
- Multiprotein Complexes - Aminomethyltransferase
- Multiprotein Complexes - Dihydrolipoamide Dehydrogenase
- Multiprotein Complexes - Dihydrolipoamide Dehydrogenase
- Multiprotein Complexes - Dihydrolipoamide Dehydrogenase
- Multiprotein Complexes - Glycine Decarboxylase Complex
- Multiprotein Complexes - Glycine Dehydrogenase (Decarboxylating)
- Mutation, Missense
- Oxidoreductases Acting on Sulfur Group Donors - Dihydrolipoamide Dehydrogenase
Date in CU Experts
- January 30, 2026 2:15 AM
Full Author List
- Coughlin CR; Swanson MA; Kronquist K; Acquaviva C; Hutchin T; Rodriguez-Pomba P; Vaisanen M-L; Spector E; Creadon-Swindell G; Bras-Goldberg AM
author count
- 20
citation count
- 76
published in
- Genetics in Medicine Journal
Other Profiles
International Standard Serial Number (ISSN)
- 1098-3600
Electronic International Standard Serial Number (EISSN)
- 1530-0366
Digital Object Identifier (DOI)
Additional Document Info
start page
- 104
end page
- 111
volume
- 19
issue
- 1