Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.
作者信息
Russo Roberta, Marra Roberta, Andolfo Immacolata, Manna Francesco, De Rosa Gianluca, Rosato Barbara Eleni, Radhakrishnan Kottayam, Fahey Michael, Iolascon Achille
机构信息
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy.
CEINGE Biotecnologie Avanzate, Naples, Italy.
出版信息
Am J Hematol. 2020 Nov;95(11):1423-1426. doi: 10.1002/ajh.25946. Epub 2020 Aug 19.
PMID:32720728
Abstract
摘要
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