Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene
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This is the first reported case of prosaposin ( PSAP ) mutation from India manifesting as an acute neuronal Gaucher disease-like condition. A 2-month-old male baby presented with encephalopathy, resistant tonic-clonic seizures, moderate hepatosplenomegaly, hyp... ...
