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A case of <scp> <i>ASAH1</i> </scp> ‐related pure SMA evolving into adult‐onset Farber disease

Angela Puma, Andra Ezaru, Michele Cavalli, Luísa Villa, Federico Torre, Valérie Biancalana, Thierry Levade, Nicolae Grecu, Sabrina Sacconi

2021Clinical Genetics10 citationsDOI

Abstract

The peer review history for this article is available at https://publons.com/publon/10.1111/cge.13974. The data that support the findings of this study are available from the corresponding author upon reasonable request.

Topics & Concepts

Computable general equilibriumSMA*DiseaseMedicineGeneticsBiologyComputer scienceInternal medicineEconomicsAlgorithmMacroeconomicsRNA regulation and diseaseProtein Tyrosine PhosphatasesLysosomal Storage Disorders Research
A case of <scp> <i>ASAH1</i> </scp> ‐related pure SMA evolving into adult‐onset Farber disease | Litcius