DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in <i>G6PC</i> by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis

• Main Authors: Emma Tabe Eko Niba (Author), Yogik Onky Silvana Wijaya (Author), Hiroyuki Awano (Author), Naoko Taniguchi (Author), Yasuhiro Takeshima (Author), Hisahide Nishio (Author), Masakazu Shinohara (Author)
• Format: Book
• Published: MDPI AG, 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Glycogen storage disease type Ia (GSDIa) is an autosomal recessive disorder caused by glucose-6-phosphatase (G6PC) deficiency. GSDIa causes not only life-threatening hypoglycemia in infancy, but also hepatocellular adenoma as a long-term complication. Hepatocellular adenoma may undergo malignant tra...