Chronic Liver Disease in Patients with Prolidase Deficiency: A Case Series

Introduction: Prolidase deficiency is a rare autosomal recessive disorder caused by variants in the PEPD gene. Patients usually have multi-organ involvement and a wide range of clinical features including recurrent skin ulcers, dysmorphic facial features, recurrent infections, intellectual disabilit...

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Bibliographic Details
Main Authors: Harish Gopalakrishna, Bilal Asif, Anjali Rai, Hari S. Conjeevaram, Maria Mironova, David E. Kleiner, Alexandra F. Freeman, Theo Heller
Format: Article
Language:English
Published: Karger Publishers 2024-02-01
Series:Case Reports in Gastroenterology
Subjects:
Online Access:https://beta.karger.com/Article/FullText/536117