Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome

被引:5
|
作者
Minucci, Angelo [1 ]
Ruggiero, Antonio [2 ]
Canu, Giulia [1 ]
Maurizi, Palma [2 ]
De Bonis, Maria [1 ]
Concolino, Paola [1 ]
De Luca, Daniele [1 ,3 ]
Capoluongo, Ettore [1 ]
机构
[1] Lab Clin Mol & Personalized Diagnost, Dept Lab Med, Rome, Italy
[2] Univ Cattolica Sacro Cuore, Div Pediat Oncol, A Gemelli Hosp, Rome, Italy
[3] South Paris Univ Hosp, AP HP, A Beclere Med Ctr, Div Pediat & Neonatal Crit Care,FAME Dept, Paris, France
关键词
PYRUVATE-KINASE DEFICIENCY; UDP-GLUCURONOSYLTRANSFERASE; HYPERBILIRUBINEMIA; GENE;
D O I
10.1002/pbc.25500
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
引用
收藏
页码:1680 / 1681
页数:2
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