Zuhal K. Yildirim; Ebba Nexo; Tony Rupar; Büyükavcı, Mustafa
(LIPPINCOTT WILLIAMS & WILKINS, 2017)
Transcobalamin deficiency (OMIM 275350) is a rare autosomal recessive disease presenting with nonspecific clinical features in early infancy. We report the clinical and laboratory manifestations of 7 children diagnosed ...