- Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment
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Boga S, Jain D, Schilsky M
- KMID: 2068799
- Pediatr Gastroenterol Hepatol Nutr.
- 2015 Sep;18(3):202-208.
- doi: 10.5223/pghn.2015.18.3.202
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is an autosomal recessive disorder of cholestasis of hepatocellular origin, typically seen in infancy or childhood caused by a defect in the ABCB4... -
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- The Challenges of Diagnosing and Following Wilson Disease in the Presence of Proteinuria
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Khan S, Schilsky M, Silber G, Morgenstern B, Miloh T
- KMID: 2328175
- Pediatr Gastroenterol Hepatol Nutr.
- 2016 Jun;19(2):139-142.
- doi: 10.5223/pghn.2016.19.2.139
The coexistence of Wilson disease with Alport syndrome has not previously been reported. The diagnosis of Wilson disease and its ongoing monitoring is challenging when associated with an underlying renal... -
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