The Neurological and Hepatic Nexus: Analyzing PFIC3 Presentation as Wilson Disease- Molecular Genetic Diagnosis and Treatment Response (P8-5.022)
To evaluate the utility of molecular genetic diagnostics in distinguishing between Wilson disease and Progressive Familial Intrahepatic Cholestasis type 3 (PFIC3) in patients with overlapping clinical features.
Authors
- Ramanjot Kaur (ORCID: https://orcid.org/0009-0001-1844-1678)
- Pulkit Sondhi
- Aparna Kathait
- Jagjot Singh
- A. Brar
Institutions
- Safdarjang Hospital (IN)
- Government Medical College, Amritsar (IN)
- Max Super Speciality Hospital (IN)
- BLK Super Speciality Hospital (IN)
Publication Details
- Journal
- Neurology
- Published
- 2025-04-07
- DOI
- https://doi.org/10.1212/wnl.0000000000210882
- Primary Topic
- Trace Elements in Health
- Type
- article
- Field-Weighted Citation Impact
- 0.00