Article

Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity

2019-12-25

Abstract excerpt

Monogenetic diseases provide unique opportunity for studying complex, clinical states that underlie neurological severity. Loss of glycine decarboxylase ( GLDC ) can severely impact neurological development as seen in non-ketotic hyperglycinemia (NKH). NKH is a neuro-metabolic disorder lacking quantitative predictors of disease states. It is characterized by elevation of glycine, seizures and failure to thrive, b...

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Literature Corpus work: dc50954f-f88a-51a9-97e2-a92585b52218
DOI: 10.1101/2019.12.20.884080

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