2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original Research
2017
A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene
Zheng DJ, Hooper M, Spencer-Manzon M, Pierce RW. A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene. Journal Of Pediatric Intensive Care 2017, 07: 062-066. PMID: 31073471, PMCID: PMC6260335, DOI: 10.1055/s-0037-1604270.Peer-Reviewed Original ResearchMetabolic supportSevere anion gap metabolic acidosisTransferase deficiencyAnion gap metabolic acidosisPediatric intensive care unitGap metabolic acidosisIntensive care unitMonth old femaleCare unitNeonatal periodSevere acidosisMetabolic acidosisEarly managementFavorable outcomeSCOT deficiencyHigh indexOld femaleOlder ageInborn errorsAcidosisOXCT1 geneImmediate transferDeficiencyFemalesTachypnea