Severe nonketotic hyperglycinaemia due to a synonymous variant
Nonketotic hyperglycinaemia (NKH) is an autosomal recessive neurometabolic disorder resulting from deficient glycine cleavage system activity, causing severe neurological impairment. While NKH is typically associated with pathogenic variants in glycine decarboxylase (GLDC) or aminomethyltransferase,...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2025-12-01
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| coleção: | Molecular Genetics and Metabolism Reports |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2214426925000837 |
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