Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Moriya Blumkin"'
Autor:
Yivgi Ohana Natalie, Nira Varda-Bloom, Jacob Schachter, Elad Jacoby, Einat Lahav, Michal J. Besser, Noah Gruber, Julia Pansheen, Yair Anikster, Omer Bar Yoseph, Noa Sher, Amos Toren, Moriya Blumkin
Publikováno v:
Blood. 132:1024-1024
Background: Pearson Syndrome (PS) is an ultra-rare disease caused by de-novo mitochondrial DNA (mtDNA) deletions. Patients present at infancy with sideroblastic anemia and later develop a multisystem metabolic disorder, leading to death in early or l