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Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report

Amirreza Jabbaripour Sarmadian1,2, Babak Abdinia1, Kia Seyed Toutounchi3

  • 1Pediatric Health Research Center Tabriz University of Medical Sciences Tabriz Iran.

Clinical Case Reports
|September 10, 2025
PubMed

Keywords:
ATP6AP1Ac45 proteincase reportcongenital disorders of glycosylationimmunological deficiency syndromesinborn errors of metabolism

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