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Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease

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0 Published in 2021 at "BMJ Case Reports"

DOI: 10.1136/bcr-2020-240742

Abstract: Diagnosis of rare disorders requires heightened clinical acumen. When such disorders present with atypical or novel features, it adds to the diagnostic challenge. A 9-month-old female infant who had received a diagnosis of neonatal hepatitis… read more here.

Keywords: manifestations farber; farber disease; gaucher disease; disease ... See more keywords