Original paper
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity
Volume: 16, Issue: 5, Pages: e1007871 - e1007871
Published: May 18, 2020
Abstract
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, but glycine reduction often fails to...
Paper Details
Title
Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity
Published Date
May 18, 2020
Journal
Volume
16
Issue
5
Pages
e1007871 - e1007871
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Notes
History