Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review

• मुख्य लेखकों: Yizhou Huang (लेखक), Han Dai (लेखक), Gangyi Yang (लेखक), Lili Zhang (लेखक), Shiyao Xue (लेखक), Min Zhu (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2021-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract 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...