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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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| Publicat a: | BMJ Case Rep |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMJ Publishing Group
2021
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| Matèries: | |
| Accés en línia: | 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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