Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
Author:
Funder
PTC Therapeutics, Inc.
EU
Dietmar-Hopp Foundation
PTC Therapeutics, Inc
Publisher
Elsevier BV
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference51 articles.
1. Natural history of aromatic l-amino acid decarboxylase deficiency in Taiwan;Hwu;JIMD Rep.,2017
2. Aromatic amino acid decarboxylase deficiency in twins;Hyland;J. Inherit. Metab. Dis.,1990
3. Clinical and biochemical features of aromatic l-amino acid decarboxylase deficiency;Brun;Neurology,2010
4. A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications;Montioli;Hum. Mol. Genet.,2014
5. Mammalian Dopa decarboxylase: structure, catalytic activity and inhibition;Bertoldi;Arch. Biochem. Biophys.,2014
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