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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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MIRAGE
glycine encephalopathy
Summary
- Synonym
-
- GCE
- NKH
- Non-ketotic hyperglycinemia
- nonketotic hyperglycinemia
- Definition
- An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q91W43 | Glycine dehydrogenase (decarboxylating), mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001252 | Hypotonia |
| HP:0001522 | Death in infancy |
| HP:0000737 | Irritability |
| HP:0100710 | Impulsivity |
| HP:0001290 | Generalized hypotonia |
| HP:0000711 | Restlessness |
| HP:0001336 | Myoclonus |
| HP:0001249 | Intellectual disability |
| HP:0003108 | Hyperglycinuria |
| HP:0001265 | Hyporeflexia |
