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Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature
Glycine encephalopathy (MIM #605899) is an autosomal recessive inborn error of metabolism caused by pathogenic variants in three genes GLDC, AMT, GCSH encoding glycine cleavage enzyme system. We report an 8-year-old boy with late-onset glycine encephalopathy who harbors a novel homozygous GLDC likel...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9932748/ https://www.ncbi.nlm.nih.gov/pubmed/36817643 http://dx.doi.org/10.1016/j.ymgmr.2023.100959 |