Fatal Kernicterus in a Girl Deficient in Glucose-6-Phosphate Dehydrogenase: A Paradigm of Synergistic Heterozygosity

Keyphrases

• Glucose-6-phosphate Dehydrogenase (G6PD) 100%
• Genome-wide Heterozygosity 100%
• Kernicterus 100%
• Young Female 50%
• Hippocampus 50%
• Fatal Outcome 50%
• Bilirubin 50%
• Basal Ganglia 50%
• Promoter Polymorphism 50%
• Mediterranean mutation 50%
• Conjugating Enzyme 50%
• Extreme Hyperbilirubinemia 50%
• Bilirubin Encephalopathy 50%
• Double Volume Exchange Transfusion 50%
• UGT1A1 50%
• Gilbert Syndrome 50%
• UGT1A1*28 50%
• Additional mutations 50%
• Autopsy Examination 50%
• Uridine Diphosphate Glucuronosyltransferase 1A1 50%

Biochemistry, Genetics and Molecular Biology

• Glucose-6-Phosphate Dehydrogenase 100%
• Bilirubin 100%
• Heterozygosity 100%
• Enzyme 50%
• Promoter Region 50%
• Exchange Transfusion 50%
• Glucuronosyltransferase 50%

Neuroscience

• Kernicterus 100%
• Glucose-6-Phosphate Dehydrogenase 100%
• Hippocampus 50%
• Promoter Region 50%
• Basal Ganglia 50%
• Bilirubin 50%
• Glucuronosyltransferase 1A1 50%