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Research article

First published 2013-7

A rare variant of alpha 1 antitrypsin mutations detected in Vietnamese children with liver disease

Thu Hà Hoàng, Thiên Ngọc Phạm, Gia Khánh Nguyễn [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Retricted access

Case report

First published 2026

A Rare Cause of Genetic Liver Disease in Children: Transaldolase Deficiency with a Novel Pathogenic Variant in Two Siblings

Ozlem Sumer Cosar, Gulsum Kayhan, Gulen Akyol [...]

Pediatric and Developmental Pathology

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Case report

First published 2019-6

Orthotropic Liver Transplantation for Acute Intrahepatic Cholestasis in Sickle Cell Disease: Clinical and Histopathologic Features of a Rare Case

Shu Kwun Lui, Alyssa Krasinskas, Rushikesh Shah [...]

International Journal of Surgical Pathology

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Brief report

First published 1992-10

A Rare Presentation of Hydatid Disease of Liver

Navneet K Chaudhry, Rajeev Kapoor, Bharati Gupta

Tropical Doctor

Open access

Other

First published 2023-5

Purpura Fulminans in Chronic Liver Disease: A Rare Association

Jaspreet Kaur, Tulika Garg, Amtoj Singh Lamba [...]

Apollo Medicine

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Research article

First published 2008-1

Primary Alveolar Soft-Part Sarcoma of the Liver: Anomalous Presentation of a Rare Disease

Kyle K. Shaddix, G. Peter Fakhre, William W. Nields [...]

The American Surgeon™

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Research article

First published 2025-10

Chiesi,Arbor Target Rare Liver Diseases in Up-to-$2.1B Gene Editing Collaboration

Alex Philippidis

GEN Edge

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Case report

First published 2026-1

Co-existence of acute liver failure and mucormycosis in an immunocompetent host: A rare presentation of Wilson's disease

Avanshu Bansal, Amit Kumar Rohila, Ankur Sharma [...]

Tropical Doctor

Open access

Research article

First published 2026

The PBC Ireland patient registry: study protocol for a national platform on primary biliary cholangitis

Gerry Nesbitt, Alexandra Curley

Therapeutic Advances in Rare Disease

Free access

Review article

First published 2016-6

Creating an effective clinical registry for rare diseases

Hedwig MA D’Agnolo, Wietske Kievit, Raul J Andrade [...]

United European Gastroenterology Journal

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