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Volume 12 (2024)
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Author = Ehsan Ghayoor Karimiani

Number of Articles: 2
Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia
Transcobalamin Deficiency with the Mutation of Tcn2 in Children with the Primary Diagnosis of Methylmalonic Academia

Sara Nikpour; Peyman Eshraghi; Ehsan Ghayoor; Nosrat Ghaemi; Sepideh Bagheri; Samaneh Norouziasl; Mojtaba Lotfi

Volume 11, Issue 7 , July 2023, , Pages 18099-18103

https://doi.org/10.22038/ijp.2023.72488.5275

Abstract
  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 ...  Read More
Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus
Presentation of DNA Methyltransferase 3 Beta Mutation with Immune Deficiency and Dilation of Aorta and Esophagus

Mohammad Ali Kiani; Ehsan Ghayoor Karimiani; Hamidreza Kianifar; Seyed Ali Jafari; Maryam Behmadi; Nasrin Moazzen; Hamid Ahanchian

Volume 10, Issue 5 , May 2022, , Pages 15998-16004

https://doi.org/10.22038/ijp.2022.62028.4762

Abstract
  Background: Immunodeficiency, Centromeric region instability, and Facial anomalies syndrome (ICF) is a rare autosomal recessive disorder with Centromeric instability as a hallmark.Method: ...  Read More