Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient.
Angelo
A
Minucci
Giulia
G
Canu
Ester
E
Tellone
Bruno
B
Giardina
Cecilia
C
Zuppi
Ettore
E
Capoluongo
D000293:Adolescent; D003414:Crigler-Najjar Syndrome / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D004252:DNA Mutational Analysis; D018740:Genetic Heterogeneity; D005838:Genotype; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000235:genetics*; D006801:Humans; D006932:Hyperbilirubinemia / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D007558:Italy; D008297:Male; D009154:Mutation; D010641:Phenotype; D011401:Promoter Regions, Genetic; D000099148:UGT1A1 Enzyme
D005954:Glucosephosphate Dehydrogenase; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme