1 results match your criteria: "Institutes of Biomedical Sciences and Children's Hospital of Fudan University[Affiliation]"
A novel deletion with two pathogenic variants of UGT1A1 causing Crigler-Najjar syndrome in two unrelated Chinese.
Clin Biochem
September 2019
Institutes of Biomedical Sciences and Children's Hospital of Fudan University, Shanghai 200032, PR China. Electronic address:
Two Chinese female infants from two unrelated families were diagnosed with Crigler-Najjar syndromes-I (CNS-I) and CNS-II respectively. The CNS-I patient had Serum Total Bilirubin Concentration (STBC) peaked at 26.1 mg/dL.
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