article_metadata: Ana Priscila Soggia Maria Lúcia Correa-Giannella Maria Angela Henriques Fortes Ana Mercedes Cavaleiro Luna Maria Adelaide Albergaria Pereira
article_metadata: 10.1186/1471-2350-11-3
article_metadata: BMC Med Genet
article_metadata: 2010 Jan 5;11:3.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/20051115/
article_metadata: Codon, Nonsense Frameshift Mutation Glycogen Storage Disease / genetics Glycogen Synthase / genetics
article_metadata: Codon, Nonsense Frameshift Mutation Glycogen Storage Disease / genetics Glycogen Synthase / genetics Case Reports Base Sequence Blood Glucose / analysis Child Exons Fasting Female Glycogen Storage Disease / diagnosis Heterozygote Humans Insulin / analysis Introns Lactic Acid / analysis Phenotype Sequence Analysis, DNA Blood Glucose Codon, Nonsense Insulin Lactic Acid Glycogen Synthase
article_metadata: PMC2837020
article_metadata: 20051115
article_metadata: A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0
article_metadata: 2010