Epidemiology, molecular genetics, and new treatment options for aromatic amino acid decarboxylase deficiency

2019 ◽  
Vol 405 ◽  
pp. 89-90
Author(s):  
N. Himmelreich ◽  
R. Montioli ◽  
M. Bertoldi ◽  
C. Carducci ◽  
V. Leuzzi ◽  
...  
Keyword(s):  
Amino Acid ◽  
Molecular Genetics ◽  
Aromatic Amino Acid ◽  
Treatment Options ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Aromatic Amino Acid Decarboxylase ◽  
New Treatment ◽  
Decarboxylase Deficiency

scholarly journals S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine

2013 ◽  
Vol 22 (8) ◽  
pp. 1615-1624 ◽  
Author(s):  
Riccardo Montioli ◽  
Elisa Oppici ◽  
Barbara Cellini ◽  
Alessandro Roncador ◽  
Mirco Dindo ◽  
...  
Keyword(s):  
Amino Acid ◽  
Aromatic Amino Acid ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Molecular Defects ◽  
Aromatic Amino Acid Decarboxylase ◽  
Decarboxylase Deficiency

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook

2019 ◽  
Vol 127 (1) ◽  
pp. 12-22 ◽  
Author(s):  
Nastassja Himmelreich ◽  
Riccardo Montioli ◽  
Mariarita Bertoldi ◽  
Carla Carducci ◽  
Vincenzo Leuzzi ◽  
...  
Keyword(s):  
Amino Acid ◽  
Aromatic Amino Acid ◽  
Acid Decarboxylase ◽  
Amino Acid Decarboxylase ◽  
Aromatic Amino Acid Decarboxylase ◽  
Metabolic Basis ◽  
Decarboxylase Deficiency
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