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Novel manifestations of Farber disease mimicking neuronopathic Gaucher disease

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 due to cytomegalovirus infection at 2 months of age presen...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Mhatre, Shweta, Muranjan, Mamta, Karande, Sunil, Balaji, Harish
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2021
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8162101/
https://ncbi.nlm.nih.gov/pubmed/34045195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-240742
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