A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

A novel TCN2 mutation with unusual clinical manifestations of hemolytic crisis and unexplained metabolic acidosis: expanding the genotype and phenotype of transcobalamin II deficiency

Background: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation. Case presentation: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenome...

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Main Authors: Pongpak Pongphitcha, Nongnuch Sirachainan, Arthaporn Khongkraparn, Thipwimol Tim-Aroon, Duantida Songdej, Duangrurdee Wattanasirichaigoon
Other Authors: Faculty of Medicine Ramathibodi Hospital, Mahidol University
Format: Article
Published: 2022
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/74272
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Institution: Mahidol University

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https://repository.li.mahidol.ac.th/handle/123456789/74272

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