Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia

Transcobalamin deficiency as a rare autosomal recessive disorder and methylmalonic acidemia is an autosomal recessive disorder of amino acid metabolism. Based on the common presentation of methylmalonic academia and Transcobalamin deficiency, in this case report, we presented rare cases of Transcoba...

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Bibliographic Details
Main Authors: Sara Nikpour, Peyman Eshraghi, Ehsan Ghayoor, Nosrat Ghaemi, Sepideh Bagheri, Samaneh Norouziasl, Mojtaba Lotfi
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2023-07-01
Series:International Journal of Pediatrics
Subjects:
Online Access:https://ijp.mums.ac.ir/article_22670_1b0e8648c37444294938c26ab5bcabc6.pdf