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Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of metabolic diseases with clinical and genetic heterogeneity, and CDG-IIg is one of the rare reported types of CDG. The aim of this study is to report the clinical manifestations and gene-phenotype characteristics of a rare case of...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8499485/ https://www.ncbi.nlm.nih.gov/pubmed/34625039 http://dx.doi.org/10.1186/s12887-021-02922-7 |