Literature DB >> 32720728

Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.

Roberta Russo1,2, Roberta Marra1,2, Immacolata Andolfo1,2, Francesco Manna2, Gianluca De Rosa2, Barbara Eleni Rosato1,2, Kottayam Radhakrishnan3,4, Michael Fahey5, Achille Iolascon1,2.   

Abstract

Entities:  

Year:  2020        PMID： 32720728     DOI： 10.1002/ajh.25946

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  3 in total

Review 1.  The congenital dyserythropoieitic anemias: genetics and pathophysiology.

Authors:  Richard King; Patrick J Gallagher; Rami Khoriaty
Journal:  Curr Opin Hematol       Date:  2021-12-24       Impact factor: 3.218

2.  Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.

Authors:  Ali Al-Otaibi; Alaa AlAyed; Asma Al Madhi; Leena Saeed; Bobby G Ng; Hudson H Freeze; Mohammed Almannai
Journal:  Mol Genet Metab Rep       Date:  2021-12-16

Review 3.  Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease.

Authors:  Francisco Del Caño-Ochoa; Santiago Ramón-Maiques
Journal:  Protein Sci       Date:  2021-07-22       Impact factor: 6.725
  3 in total

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