Amlexanox provides a potential therapy for nonsense mutations in the lysosomal storage disorder Aspartylglucosaminuria
Author:
Funder
Rare Trait Hope Fund
Vaincre l'AGU Foundation
Publisher
Elsevier BV
Subject
Molecular Biology,Molecular Medicine
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4. Dissection of the molecular pathology of aspartylglucosaminuria provides the basis for DNA diagnostics and future therapeutic interventions;Ikonen;Scand. J. Clin. Lab. Investig. Suppl.,1993
5. Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family;Opladen;J. Child Neurol.,2014
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