Biopsy at 14 years of Age

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Microscopic Findings

• Nonspecific reactive changes in hepatocytes
• More advanced fibrosis with bridging

Ultrastructural Findings

References

• Warren M, Mierau G, Wartchow E, Shimada H, Yano S. Histologic and ultrastructural features in early and advanced phases of Zellweger Spectrum disorder (infantile Refsum disease). Ultrastruct Pathol. 2018 May-Jun;42(3):220-227.
• Braverman NE, D’Agostino MD, Maclean GE. Peroxisome biogenesis disorders: biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev. 2013;17:187–196.
• Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders in the Zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines. Mol Genet Metab. 2016;117:313–321.

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