article_metadata: Bin Xin Haiming Chen Tianyi Liu Yue Wu Qingyang Hu Xue Dong Zhong Li
article_metadata: 10.1002/mgg3.2339
article_metadata: Mol Genet Genomic Med
article_metadata: 2024 Jan;12(1):e2339.
article_metadata: fbp1 gene fructose-1,6-bisphosphatase (fbpase) deficiency hypoglycemia mutation
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/38111981/
article_metadata: Acidosis, Lactic / genetics Fructose-1,6-Diphosphatase Deficiency / diagnosis Fructose-1,6-Diphosphatase Deficiency / genetics Hypoglycemia / genetics
article_metadata: Acidosis, Lactic / genetics Fructose-1,6-Diphosphatase Deficiency / diagnosis Fructose-1,6-Diphosphatase Deficiency / genetics Hypoglycemia / genetics Case Reports Child Fructose-Bisphosphatase / genetics Fructose-Bisphosphatase / metabolism Humans Male Mutation Fructose-Bisphosphatase
article_metadata: PMC10767684
article_metadata: 38111981
article_metadata: Novel compound heterozygous mutations of the FBP1 gene in a patient with hypoglycemia and lactic acidosis: A case report
article_metadata: 2024